ClinVar Miner

Submissions for variant NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) (rs121434517)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000004282 SCV000147932 pathogenic Aicardi Goutieres syndrome 5 2014-03-13 no assertion criteria provided literature only
Invitae RCV000004282 SCV000829496 pathogenic Aicardi Goutieres syndrome 5 2018-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg145*) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121434517, ExAC 0.02%). This variant has been reported as homozygous and/or in combination with another SAMHD1 variant in several individuals affected with Aicardi-Goutières syndrome (PMID: 19525956, 25604658, 20358604). Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004282 SCV000024448 pathogenic Aicardi Goutieres syndrome 5 2010-04-01 no assertion criteria provided literature only

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