ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11C>T (p.Ser4Phe)

dbSNP: rs1406641105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069926 SCV001235124 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2019-04-26 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKDC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with phenylalanine at codon 4 of the PRKDC protein (p.Ser4Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine.

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