ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)

dbSNP: rs1447774727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675004 SCV000800428 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000675004 SCV001589489 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-01-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558697). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Asp780*) 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).
Baylor Genetics RCV004568573 SCV005059999 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-01-16 criteria provided, single submitter clinical testing

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