ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)

dbSNP: rs1555420462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726798 SCV000703097 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000593032 SCV000799983 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV000593032 SCV001413368 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-04-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp168*) 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 has not been reported in the literature in individuals affected with CAPN3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 498205).
Baylor Genetics RCV003459465 SCV004213826 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-09-17 criteria provided, single submitter clinical testing

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