Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
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. |