ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.2955G>C (p.Glu985Asp) (rs202016860)

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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 RCV000788287 SCV000927342 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV001065323 SCV001230279 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 985 of the PRKDC protein (p.Glu985Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs202016860, ExAC 0.02%). This variant has not been reported in the literature in individuals with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 636454). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). 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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