ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)

dbSNP: rs763649825
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956510 SCV002246057 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe88Leufs*2) 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. This variant has been observed in individual(s) with CAPN3-related conditions (PMID: 28403181). This variant is not present in population databases (ExAC no frequency).

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