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Merosin deficient congenital muscular dystrophy

LAMA2 · rs757435241

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Likely pathogenic for Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal recessive 23, Gastric cancer; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2024-06-19. ClinVar record 551751 NM_000426.4(LAMA2):c.6573+1G>A

Classification Likely pathogenic for LAMA2-related muscular dystrophy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-02-05. ClinVar record 2813776 NM_000426.4(LAMA2):c.6573+1G>C

Classification Likely pathogenic for Merosin deficient congenital muscular dystrophy; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2018-05-14. ClinVar record 558325 NM_000426.4(LAMA2):c.6573+1G>T

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version ClinVar lists as likely disease-causing for Merosin deficient congenital muscular dystrophy. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000551751, criteria provided, multiple submitters, no conflicts)
A/G One copy of the version ClinVar lists as likely disease-causing for Merosin deficient congenital muscular dystrophy. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000551751, criteria provided, multiple submitters, no conflicts)
G/G No copy of the version ClinVar lists as likely disease-causing for Merosin deficient congenital muscular dystrophy. This is the usual result. (ClinVar VCV000551751, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000551751, criteria provided, multiple submitters, no conflicts

Questions about rs757435241

What is rs757435241?

rs757435241 is a single position in the genome, in or near the LAMA2 gene. Published research associates it with merosin deficient congenital muscular dystrophy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs757435241 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs757435241 come from?

ClinVar VCV000551751, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Merosin deficient congenital muscular dystrophy (rs757435241). MyGeneLog™. https://www.mygenelog.com/variants/rs757435241

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