ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)

gnomAD frequency: 0.00006  dbSNP: rs45577037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002038397 SCV002311044 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2022-06-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 110 of the PARK7 protein (p.Thr110Ala). This variant is present in population databases (rs45577037, gnomAD 0.03%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 27294386). 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 C55"). 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.
Fulgent Genetics, Fulgent Genetics RCV002038397 SCV002783639 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2021-07-01 criteria provided, single submitter clinical testing

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