ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)

dbSNP: rs794727615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354989 SCV000337106 pathogenic not provided 2015-10-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004990 SCV001164544 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-12-03 criteria provided, single submitter research The homozygous p.Ile178Thr variant in CAPN3 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ile178Thr variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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