ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) (rs369952560)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487324 SCV000573653 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing The T255I variant of uncertain significance in the ATP6V0A2 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In addition, T255I is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position where only amino acids with similar properties to threonine are tolerated across species. The majority of in silico algorithms predict this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ATP6V0A2-related disorders (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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