ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)

dbSNP: rs1018100729
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673365 SCV000798561 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001208127 SCV001379502 pathogenic LAMA2-related muscular dystrophy 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln95*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 16216942, 24611677). ClinVar contains an entry for this variant (Variation ID: 557249). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784282 SCV002016416 pathogenic not provided 2019-05-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673365 SCV005059882 pathogenic Merosin deficient congenital muscular dystrophy 2024-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723056 SCV005335968 pathogenic LAMA2-related disorder 2024-07-31 no assertion criteria provided clinical testing The LAMA2 c.283C>T variant is predicted to result in premature protein termination (p.Gln95*). This variant was reported in the homozygous and compound heterozygous state in two individuals with congenital muscular dystrophy, type 1A (Table 2, Di Blasi et al. 2005. PubMed ID: 16216942; Table 2, Xiong et al. 2014. PubMed ID: 24611677). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in LAMA2 are expected to be pathogenic. It is interpreted as likely pathogenic/pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/557249/). This variant is interpreted as pathogenic.

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