ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)

dbSNP: rs2053484604
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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. RCV001263856 SCV001441953 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001263856 SCV003196487 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg258*) 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: 983853). For these reasons, this variant has been classified as Pathogenic.

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