ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.853dup (p.Glu285fs)

gnomAD frequency: 0.00001  dbSNP: rs761257703
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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) RCV000370459 SCV000345353 pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859722 SCV002241042 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu285Glyfs*12) 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 variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 290732). 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 RCV003463779 SCV004213823 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-10-31 flagged submission clinical testing

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