ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)

dbSNP: rs2053910936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246101 SCV001419439 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln521*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 28403181). ClinVar contains an entry for this variant (Variation ID: 970519). For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV001246101 SCV002058362 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported to be associated with CAPN3 related disorder (ClinVar ID: VCV000970519, PMID:28403181). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV003462825 SCV004213810 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-01-26 flagged submission clinical testing

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