ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro)

gnomAD frequency: 0.00011  dbSNP: rs201883689
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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 RCV001040605 SCV001204189 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 3997 of the PRKDC protein (p.Leu3997Pro). This variant is present in population databases (rs201883689, gnomAD 0.2%). 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: 838947). 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.
Baylor Genetics RCV001040605 SCV001527510 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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