ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)

dbSNP: rs727502851
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668682 SCV000793323 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-08-10 criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000668682 SCV000891602 pathogenic Merosin deficient congenital muscular dystrophy 2017-12-30 criteria provided, single submitter curation
Illumina Laboratory Services, Illumina RCV000779487 SCV000916120 likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2024-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000824022 SCV000964897 pathogenic LAMA2-related muscular dystrophy 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2630*) 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 (rs727502851, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of LAMA2-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 162579). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781490 SCV002016436 pathogenic not provided 2020-10-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668682 SCV005059891 pathogenic Merosin deficient congenital muscular dystrophy 2024-02-05 criteria provided, single submitter clinical testing

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