ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.924C>G (p.Cys308Trp)

dbSNP: rs771622669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294727 SCV001483617 uncertain significance Developmental and epileptic encephalopathy, 12 2022-08-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 998821). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.07%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 308 of the PNKP protein (p.Cys308Trp).
Breakthrough Genomics, Breakthrough Genomics RCV004692417 SCV005194762 uncertain significance not provided criteria provided, single submitter not provided

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