ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.28C>G (p.Leu10Val)

gnomAD frequency: 0.00001  dbSNP: rs1309873819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797024 SCV000936563 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2018-11-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with PARK7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 10 of the PARK7 protein (p.Leu10Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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.

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