ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)

gnomAD frequency: 0.00013  dbSNP: rs774005786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795779 SCV000935253 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 104 of the PARK7 protein (p.Ala104Thr). This variant is present in population databases (rs774005786, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with Parkinson disease (PMID: 12891685, 15254937). ClinVar contains an entry for this variant (Variation ID: 642328). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PARK7 function (PMID: 15790532, 15944198, 18181649, 18436956, 22173095, 28993701, 29599708, 32144268). 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.
Illumina Laboratory Services, Illumina RCV000795779 SCV001253888 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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