ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)

dbSNP: rs2141224217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936391 SCV002205724 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr734Leufs*42) 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 (ExAC no frequency). 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.
Baylor Genetics RCV003475182 SCV004211550 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-03 flagged submission clinical testing

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