ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) (rs1582953433)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000999646 SCV001135001 likely pathogenic Parkinson disease 2 2019-11-22 criteria provided, single submitter clinical testing A Heterozygous missense variation in exon 12 of the PARK2 gene that results in the amino acid substitution of Threonine for Methionine at codon 434 was detected. The observed variant c.1301T>C (p.Met434Thr) has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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