ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.904C>T (p.His302Tyr)

gnomAD frequency: 0.00001  dbSNP: rs755749488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224682 SCV001396896 uncertain significance not provided 2023-01-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs755749488, gnomAD 0.004%). 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: 952556). This missense change has been observed in individual(s) with clinical features of early-onset Parkinson disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 302 of the PRKN protein (p.His302Tyr).
Genetics and Molecular Pathology, SA Pathology RCV002272421 SCV002556852 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2021-06-30 criteria provided, single submitter clinical testing

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