ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) (rs768091663)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494163 SCV000582551 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing The A168P pathogenic variant in the PINK1 gene has been reported previously as homozygous in one individual with early-onset parkinsonism who presented with gait impairment at the age of 39 years (Valente et al., 2004). Additionally, functional studies indicated the A168P variant disrupted recruitment of the parkin protein to the mitochondria (Narendra et al., 2013). The A168P variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A168P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A168P as a pathogenic variant.
GenomeConnect, ClinGen RCV000509548 SCV000607030 not provided PINK1-Related Parkinsonism no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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