ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)

dbSNP: rs1457010016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038288 SCV001201752 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-02-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 837037). This premature translational stop signal has been observed in individual(s) with CAPN3-related conditions (PMID: 32994280). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His774Glnfs*8) 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). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV001784577 SCV002018051 pathogenic not provided 2019-10-22 criteria provided, single submitter clinical testing

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