ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2290del (p.Asp764fs)

gnomAD frequency: 0.00001  dbSNP: rs886044527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726531 SCV000701562 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000594511 SCV000790900 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-05-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726531 SCV002018065 pathogenic not provided 2019-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594511 SCV002227607 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-05-12 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: 497201). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive CAPN3-related conditions (PMID: 31671740). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Asp764Thrfs*12) 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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