ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) (rs776827432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731622 SCV000859466 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000731622 SCV000621436 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing The A7P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A7P variant is not observed in large population cohorts (Lek et al., 2016). The A7P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Missense variants in nearby residues (T3N, V4I) have been reported in the Human Gene Mutation Database in association with limb girdle muscular dystrophy (Stenson et al., 2014). However, this substitution occurs at a position that is not conserved, and Proline is observed at this position in evolution. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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