ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3568C>G (p.Leu1190Val)

dbSNP: rs34598508
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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 RCV002993546 SCV003291458 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1190 of the PRKDC protein (p.Leu1190Val). 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. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs34598508, gnomAD 0.004%).
Ambry Genetics RCV004065178 SCV003864541 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The p.L1190V variant (also known as c.3568C>G), located in coding exon 30 of the PRKDC gene, results from a C to G substitution at nucleotide position 3568. The leucine at codon 1190 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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