ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)

dbSNP: rs2054179951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264018 SCV001442118 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001264018 SCV002234642 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984013). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp721*) 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).

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