ClinVar Miner

Submissions for variant NM_018206.6(VPS35):c.946C>T (p.Pro316Ser)

gnomAD frequency: 0.00009  dbSNP: rs770029606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000576928 SCV002975576 uncertain significance Parkinson disease 17 2022-02-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on VPS35 function (PMID: 25288323, 25533483, 26321632, 27385586). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 487671). This missense change has been observed in individual(s) with Parkinson disease (PMID: 21763482, 23408866). This variant is present in population databases (rs770029606, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 316 of the VPS35 protein (p.Pro316Ser).
GeneReviews RCV000576928 SCV000679657 not provided Parkinson disease 17 no assertion provided literature only

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