ClinVar Miner

Submissions for variant NM_018206.6(VPS35):c.959C>T (p.Ala320Val) (rs747944333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520871 SCV000619320 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing The A320V variant in the VPS35 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 10/9988 (0.1%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The A320V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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. We interpret A320V as a variant of uncertain significance.
Invitae RCV001497950 SCV001702689 likely benign Parkinson disease 17 2020-10-13 criteria provided, single submitter clinical testing

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