ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.8986C>T (p.Leu2996Phe)

gnomAD frequency: 0.00002  dbSNP: rs544832472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344018 SCV001538046 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-09-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2996 of the PRKDC protein (p.Leu2996Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs544832472, ExAC 0.3%). This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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.

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