ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)

dbSNP: rs121913576
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790693 SCV000231258 pathogenic not provided 2013-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654712 SCV000776611 pathogenic LAMA2-related muscular dystrophy 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2383*) 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 (rs121913576, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 11071490, 24223650, 24611677, 30055037). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 14300). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000179066 SCV000791863 pathogenic Merosin deficient congenital muscular dystrophy 2017-05-25 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000179066 SCV002579989 pathogenic Merosin deficient congenital muscular dystrophy 2022-07-26 criteria provided, single submitter clinical testing
Variantyx, Inc. RCV002444431 SCV002754529 pathogenic LAMA2-related disorder 2022-11-04 criteria provided, single submitter clinical testing This is a nonsense variant in the LAMA2 gene (OMIM 156225). Biallelic pathogenic variants in this gene have been associated with autosomal recessive LAMA2-related disorders. This variant introduces a premature termination codon in exon 50 out of 65. It is expected to result in loss of function, which is a known disease mechanism for LAMA2 (PMID: 18700894) (PVS1) This variant has been reported in the homozygous or compound heterozygous state in multiple affected individuals (PMID: 11071490, 24223650, 24611677, 30055037) (PM3). This variant has a 0.006533% maximum allele frequency in non-founder control populations (https://gnomad.broadinstitute.org/), which is lower than expected for the prevalence of LAMA2-related disorders (PM2_Supporting). Based on the current evidence, this variant is classified as pathogenic for autosomal recessive LAMA2-related disorders.
Fulgent Genetics, Fulgent Genetics RCV002476971 SCV002797949 pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2024-01-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000179066 SCV004190432 pathogenic Merosin deficient congenital muscular dystrophy 2023-12-27 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002476971 SCV005418666 pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_VeryStrong+PP4
OMIM RCV000015370 SCV000035631 pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2000-10-24 no assertion criteria provided literature only

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