ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.717del (p.Phe239fs)

dbSNP: rs776059672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725535 SCV000337587 pathogenic not provided 2015-11-13 criteria provided, single submitter clinical testing
Counsyl RCV000365092 SCV000793865 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000365092 SCV001587216 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-02-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 284807). This premature translational stop signal has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 9150160). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs776059672, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Phe239Leufs*14) 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). For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814147 SCV001755644 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000365092 SCV002581072 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-08-01 criteria provided, single submitter clinical testing

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