ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1714G>A (p.Val572Ile)

dbSNP: rs1184535587
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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 RCV001320023 SCV001510793 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 572 of the PRKDC protein (p.Val572Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1020445). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PRKDC protein function with a negative predictive value of 80%. 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 RCV004034993 SCV002714718 uncertain significance not specified 2022-01-26 criteria provided, single submitter clinical testing The p.V572I variant (also known as c.1714G>A), located in coding exon 16 of the PRKDC gene, results from a G to A substitution at nucleotide position 1714. The valine at codon 572 is replaced by isoleucine, 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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