ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3788C>T (p.Ala1263Val)

dbSNP: rs1245428623
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208092 SCV001379464 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-10-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1263 of the PRKDC protein (p.Ala1263Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. 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: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available"). 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.

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