ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6917A>G (p.Asn2306Ser)

dbSNP: rs1437770723
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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 RCV001244260 SCV001417468 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2019-11-12 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: "Not Available"; Align-GVGD: "Class C0"). 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). This sequence change replaces asparagine with serine at codon 2306 of the PRKDC protein (p.Asn2306Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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