ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) (rs28940285)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002509 SCV000934807 pathogenic Parkinson disease 6, autosomal recessive early-onset 2019-09-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 347 of the PINK1 protein (p.Leu347Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs28940285, ExAC 0.02%). This variant has been observed as homozygous in several individuals and to segregate with autosomal recessive early-onset Parkinson disease in a family (PMID: 15349870, 17055324, 22956510). This variant is considered a founder mutation in the Filipino population. ClinVar contains an entry for this variant (Variation ID: 2408). This variant has been reported to affect PINK1 protein function (PMID: 23303188, 17579517, 18359116, 15824318). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000002509 SCV001150212 pathogenic Parkinson disease 6, autosomal recessive early-onset 2019-06-07 criteria provided, single submitter clinical testing
OMIM RCV000002509 SCV000022667 pathogenic Parkinson disease 6, autosomal recessive early-onset 2005-04-19 no assertion criteria provided literature only

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