ClinVar Miner

Submissions for variant NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)

dbSNP: rs1694770280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253244 SCV001428864 uncertain significance Paroxysmal nonkinesigenic dyskinesia 1 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594124 SCV004246116 uncertain significance Paroxysmal nonkinesigenic dyskinesia 2023-09-01 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt PNKD protein function. ClinVar contains an entry for this variant (Variation ID: 976065). This variant has not been reported in the literature in individuals affected with PNKD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 293 of the PNKD protein (p.Tyr293Cys).

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