ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6308A>T (p.His2103Leu)

dbSNP: rs2154500555
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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 RCV001910053 SCV002186107 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-07-06 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1408620). 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 histidine with leucine at codon 2103 of the PRKDC protein (p.His2103Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine.

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