ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.938C>T (p.Thr313Met)

gnomAD frequency: 0.00001  dbSNP: rs74315359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002514 SCV002229155 pathogenic Autosomal recessive early-onset Parkinson disease 6 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 313 of the PINK1 protein (p.Thr313Met). This variant is present in population databases (rs74315359, gnomAD 0.01%). This missense change has been observed in individuals with autosomal recessive early-onset Parkinson disease (PMID: 18541801, 18785233, 26274610). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2413). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PINK1 protein function. Experimental studies have shown that this missense change affects PINK1 function (PMID: 22238344, 23303188, 23459931, 29255601). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002514 SCV000022672 pathogenic Autosomal recessive early-onset Parkinson disease 6 2006-10-01 no assertion criteria provided literature only

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