ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.624G>A (p.Met208Ile)

dbSNP: rs2154504570
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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 RCV001964089 SCV002249701 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-04-24 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This sequence change replaces methionine with isoleucine at codon 208 of the PRKDC protein (p.Met208Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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.

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