ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8447T>G (p.Ile2816Ser)

dbSNP: rs544979397
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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 RCV002013424 SCV002290049 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-07-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 2816 of the PRKDC protein (p.Ile2816Ser). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and serine. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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