ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.593_618del (p.Arg198fs) (rs1589817900)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806999 SCV000947024 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg198Profs*30) in the PRKDC gene. It is expected to result in an absent or disrupted protein product. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKDC cause disease. 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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