ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)

gnomAD frequency: 0.00001  dbSNP: rs886042439
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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) RCV000349807 SCV000334169 pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814142 SCV001755305 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729504 SCV001976957 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM1, PM2, PP3, PP5
Revvity Omics, Revvity RCV000349807 SCV002018061 pathogenic not provided 2021-08-09 criteria provided, single submitter clinical testing
Invitae RCV001729504 SCV002229974 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-05-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 282617). This sequence change creates a premature translational stop signal (p.Tyr537*) 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 individual(s) with limb-girdle muscular dystrophy (LGMD) (PMID: 9150160). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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