ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.741_751del (p.Met248fs)

dbSNP: rs1555420647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671049 SCV000795989 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671049 SCV000815738 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-04-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with CAPN3-related disease. This sequence change creates a premature translational stop signal (p.Met248Hisfs*16) 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).

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