ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.799T>C (p.Tyr267His)

gnomAD frequency: 0.00055  dbSNP: rs114696251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344970 SCV001539062 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 267 of the PRKN protein (p.Tyr267His). This variant is present in population databases (rs114696251, gnomAD 0.2%). This missense change has been observed in individual(s) with Alzheimer disease and/or Parkinson disease (PMID: 19006224, 31182772). ClinVar contains an entry for this variant (Variation ID: 649511). 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 PRKN protein function. Experimental studies have shown that this missense change affects PRKN function (PMID: 25939424). 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.
Fulgent Genetics, Fulgent Genetics RCV002477847 SCV002779695 uncertain significance Autosomal recessive juvenile Parkinson disease 2; Neoplasm of ovary; Lung cancer 2021-11-08 criteria provided, single submitter clinical testing

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