ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)

dbSNP: rs1595822648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001004977 SCV001164519 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-12-03 criteria provided, single submitter research The homozygous p.Ala227Thr 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 by affecting the splicing site, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala227Thr is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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