ClinVar Miner

Submissions for variant NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr)

dbSNP: rs1965895979
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219052 SCV001390972 uncertain significance Parkinson disease 17 2022-07-19 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. 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: 947902). This variant has not been reported in the literature in individuals affected with VPS35-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 784 of the VPS35 protein (p.Pro784Thr).

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