ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)

dbSNP: rs201632009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790793 SCV000229767 pathogenic not provided 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000177827 SCV000799244 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003736570 SCV004540441 pathogenic LAMA2-related muscular dystrophy 2023-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 92964). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 30055037). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1684*) 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).

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