ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)

gnomAD frequency: 0.00001  dbSNP: rs121913577
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824626 SCV000965531 pathogenic LAMA2-related muscular dystrophy 2023-04-28 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with autosomal recessive congenital muscular dystrophy (PMID: 9541105, 16216942, 30055037, 30147969). This sequence change creates a premature translational stop signal (p.Cys967*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is present in population databases (rs121913577, gnomAD 0.002%). ClinVar contains an entry for this variant (Variation ID: 14301). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001091209 SCV001247104 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000015371 SCV001367183 pathogenic Merosin deficient congenital muscular dystrophy 2020-03-23 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4,PM2,PP4.
Baylor Genetics RCV000015371 SCV004190459 pathogenic Merosin deficient congenital muscular dystrophy 2024-03-24 criteria provided, single submitter clinical testing
OMIM RCV000015371 SCV000035632 pathogenic Merosin deficient congenital muscular dystrophy 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000015371 SCV000054524 not provided Merosin deficient congenital muscular dystrophy no assertion provided literature only

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