ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10637C>G (p.Ser3546Cys)

dbSNP: rs2086939960
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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 RCV001234778 SCV001407437 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2019-10-14 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 3546 of the PRKDC protein (p.Ser3546Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is not present in population databases (ExAC no frequency).

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