ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)

dbSNP: rs752848213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298797 SCV000344888 pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812975 SCV000953305 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr554*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with limb-girdle muscular dystrophy (PMID: 17994539). ClinVar contains an entry for this variant (Variation ID: 290348). Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). For these reasons, this variant has been classified as Pathogenic.

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