ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.167T>A (p.Val56Glu) (rs137853059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007463 SCV000932345 uncertain significance Parkinson disease 2 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 56 of the PARK2 protein (p.Val56Glu). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is present in population databases (rs137853059, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant and segregated with early-onset Parkinson's disease in a family (PMID: 12056932). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 7047). Experimental studies have shown that this missense change decreases the stability of the PARK2 protein (PMID: 15606901). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000007463 SCV000027663 pathogenic Parkinson disease 2 2002-06-01 no assertion criteria provided literature only

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