ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu)

gnomAD frequency: 0.00004  dbSNP: rs763416852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658504 SCV000780272 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001861701 SCV002165926 uncertain significance Autosomal recessive early-onset Parkinson disease 6 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 385 of the PINK1 protein (p.Phe385Leu). This variant is present in population databases (rs763416852, gnomAD 0.03%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 18704525). ClinVar contains an entry for this variant (Variation ID: 546594). 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 PINK1 protein function. 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.

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