ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.444del (p.Ile149fs)

dbSNP: rs2053401167
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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 RCV001039424 SCV001202954 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-05-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile149Tyrfs*30) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CAPN3-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361).

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