ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)

dbSNP: rs121434518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004285 SCV004298068 pathogenic Aicardi-Goutieres syndrome 5 2023-01-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 4070). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 19525956). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln149*) in the SAMHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this premature translational stop signal affects SAMHD1 function (PMID: 19525956, 22461318).
OMIM RCV000004285 SCV000024451 pathogenic Aicardi-Goutieres syndrome 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000004285 SCV000147934 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.