ClinVar Miner

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

dbSNP: 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 Autosomal recessive juvenile 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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