ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1123G>C (p.Val375Leu)

dbSNP: rs763664375
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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 RCV001205107 SCV001376344 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 375 of the PRKDC protein (p.Val375Leu). This variant is present in population databases (rs763664375, gnomAD 0.002%). 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. ClinVar contains an entry for this variant (Variation ID: 936328). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions.
Ambry Genetics RCV004033638 SCV003944293 uncertain significance not specified 2023-06-01 criteria provided, single submitter clinical testing The c.1123G>C (p.V375L) alteration is located in exon 12 (coding exon 12) of the PRKDC gene. This alteration results from a G to C substitution at nucleotide position 1123, causing the valine (V) at amino acid position 375 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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