ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2081C>T (p.Ser694Phe)

gnomAD frequency: 0.00001  dbSNP: rs2090207455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340436 SCV001534245 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 694 of the PRKDC protein (p.Ser694Phe). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1037305). 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.
Ambry Genetics RCV004035939 SCV002726828 uncertain significance not specified 2021-09-07 criteria provided, single submitter clinical testing The p.S694F variant (also known as c.2081C>T), located in coding exon 19 of the PRKDC gene, results from a C to T substitution at nucleotide position 2081. The serine at codon 694 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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