ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.502A>G (p.Ile168Val)

gnomAD frequency: 0.00003  dbSNP: rs374962638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001099353 SCV001255803 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003883552 SCV004702744 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing PARK7: PM2, BP4

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