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Merosin deficient congenital muscular dystrophy

LAMA2 · rs192317605

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

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 Conflicting classifications of pathogenicity for LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency, Muscular dystrophy, limb-girdle, autosomal recessive 23, Gastric cancer; criteria provided, conflicting classifications (1 of 4 stars, 8 submitters), last evaluated 2026-01-28. ClinVar record 435712 NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)

Classification Pathogenic for Merosin deficient congenital muscular dystrophy; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2023-04-12. ClinVar record 988020 NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)

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.

How common each version is

GT

Korean KRGDB

G 98.7% · T 1.3%

Korean Korea4K

G 98.8% · T 1.2%

Korean Korea1K

G 98.9% · T 1.1%

Japanese ToMMo

G 99.4% · T 0.6%

Vietnamese

G 99.2% · T 0.8%

World gnomAD

G 100.0% · T 0.1%

World 1000 Genomes

G 99.8% · T 0.2%

World TOPMed

G 99.9% · T 0.1%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version ClinVar lists as 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. So far only one lab has made this call, so it may change. (ClinVar VCV000988020, criteria provided, single submitter)

A/G One copy of the version ClinVar lists as 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. So far only one lab has made this call, so it may change. (ClinVar VCV000988020, criteria provided, single submitter)

G/G No copy of the version ClinVar lists as disease-causing for Merosin deficient congenital muscular dystrophy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000988020, criteria provided, single submitter)

Source: ClinVar VCV000988020, criteria provided, single submitter

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 (rs192317605). MyGeneLog™. https://www.mygenelog.com/variants/rs192317605

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