ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.37C>G (p.Leu13Val)

dbSNP: rs761140462
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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 RCV000652363 SCV000774233 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-10-16 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 13 of the PRKDC protein (p.Leu13Val). This variant is not present in population databases (gnomAD no frequency). 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: 542000). 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 RCV004025857 SCV002624723 uncertain significance not specified 2021-08-08 criteria provided, single submitter clinical testing The p.L13V variant (also known as c.37C>G), located in coding exon 1 of the PRKDC gene, results from a C to G substitution at nucleotide position 37. The leucine at codon 13 is replaced by valine, an amino acid with highly similar 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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