ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1402_1403del (p.Ala468fs) (rs876661068)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222020 SCV000279448 uncertain significance not specified 2016-01-12 criteria provided, single submitter clinical testing The c.1402_1403delGCinsTT variant has been previously reported as a variant of uncertain significance in 3 individuals with CMT (Antoniadi et al., 2015). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1402_1403delGCinsTT results in an in-frame deletion of a single Alanine residue and the insertion of a single Phenylalanine residue, denoted p.A468F. The A468F variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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