ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5134C>T (p.Arg1712Cys)

dbSNP: rs1274434553
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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 RCV001943922 SCV002189896 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-06-13 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. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine with cysteine at codon 1712 of the PRKDC protein (p.Arg1712Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine.

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