Total submissions: 2
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, |
RCV002477847 | SCV002779695 | uncertain significance | Autosomal recessive juvenile Parkinson disease 2; Neoplasm of ovary; Lung cancer | 2021-11-08 | criteria provided, single submitter | clinical testing |