ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)

dbSNP: rs2151432344
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823440 SCV002072878 uncertain significance Autosomal recessive early-onset Parkinson disease 7 criteria provided, single submitter clinical testing The missense variant p.S85P in PARK7 (NM_007262.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S85P variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between serine and proline. The p.S85P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.253 in PARK7 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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