ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.437T>G (p.Val146Gly)

gnomAD frequency: 0.00001  dbSNP: rs761919138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924245 SCV002206982 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2021-09-20 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: "Probably 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 has not been reported in the literature in individuals affected with PARK7-related conditions. This variant is present in population databases (rs761919138, ExAC 0.003%). This sequence change replaces valine with glycine at codon 146 of the PARK7 protein (p.Val146Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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