ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg)

dbSNP: rs587777685
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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 RCV002514770 SCV003440196 pathogenic Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 154322). This variant is also known as c.9239T>G (p.Leu3061Arg). This missense change has been observed in individual(s) with severe combined immunodeficiency (PMID: 19075392, 25842288, 30121298). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3062 of the PRKDC protein (p.Leu3062Arg).
OMIM RCV000142389 SCV000188674 pathogenic Immunodeficiency 26 without neurologic abnormalities 2009-01-01 no assertion criteria provided literature only

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