ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9724A>T (p.Met3242Leu)

dbSNP: rs775383563
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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 RCV000821711 SCV000962480 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-15 criteria provided, single submitter clinical testing 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: 663764). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3242 of the PRKDC protein (p.Met3242Leu).

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