ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)

dbSNP: rs1566983844
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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) RCV000730818 SCV000858582 pathogenic not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001213723 SCV001385372 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln619*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 25135358). ClinVar contains an entry for this variant (Variation ID: 595306). 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.
Baylor Genetics RCV003472265 SCV004211523 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-20 criteria provided, single submitter clinical testing

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