ClinVar Miner

Submissions for variant NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791952 SCV000931223 pathogenic Aicardi Goutieres syndrome 5 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu234*) in the SAMHD1 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 SAMHD1-related conditions. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). For these reasons, this variant has been classified as Pathogenic.

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