ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)

gnomAD frequency: 0.00002  dbSNP: rs368420490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699924 SCV000828655 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2018-03-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PARK7-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant is present in population databases (rs368420490, ExAC 0.02%). This sequence change replaces glycine with serine at codon 150 of the PARK7 protein (p.Gly150Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.

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