ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)

dbSNP: rs886042573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725225 SCV000335121 pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing
Counsyl RCV000283334 SCV000792539 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000283334 SCV002242152 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 10330340). ClinVar contains an entry for this variant (Variation ID: 283179). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu582Glyfs*3) 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).

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