ClinVar Miner

Submissions for variant NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) (rs192419029)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092924 SCV001249666 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Invitae RCV000577307 SCV001399470 uncertain significance Parkinson disease 17 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 774 of the VPS35 protein (p.Leu774Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs192419029, ExAC 0.007%). This variant has been observed in individuals affected with Parkinson's disease (PMID: 21763483, 23125461, 28862745). ClinVar contains an entry for this variant (Variation ID: 487678). This variant has been reported not to substantially affect VPS35 protein function (PMID: 25288323, 26251041). 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.
GeneReviews RCV000577307 SCV000679664 uncertain significance Parkinson disease 17 2017-04-19 no assertion criteria provided literature only

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