ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys)

gnomAD frequency: 0.00002  dbSNP: rs755060576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808530 SCV000948640 uncertain significance Autosomal recessive early-onset Parkinson disease 6 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PINK1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 652873). This variant is present in population databases (rs755060576, gnomAD 0.002%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 321 of the PINK1 protein (p.Tyr321Cys).

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