ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys)

dbSNP: rs1600420551
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817872 SCV000958456 uncertain significance Developmental and epileptic encephalopathy, 12 2019-03-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PNKP-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 211 of the PNKP protein (p.Tyr211Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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