ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8692C>T (p.Leu2898Phe)

gnomAD frequency: 0.00010  dbSNP: rs746024122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685246 SCV000812720 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2898 of the PRKDC protein (p.Leu2898Phe). This variant is present in population databases (rs746024122, gnomAD 0.01%). 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: 565638). 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.

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