ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val)

gnomAD frequency: 0.00002  dbSNP: rs376292677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788246 SCV000927297 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536898 SCV003485226 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1757 of the PRKDC protein (p.Met1757Val). This variant is present in population databases (rs376292677, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 636421). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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