ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434517
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004282 SCV000829496 pathogenic Aicardi-Goutieres syndrome 5 2023-12-22 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. Loss-of-function variants in SAMHD1 are known to be pathogenic (PMID: 19525956, 22461318). This variant is present in population databases (rs121434517, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Aicardi-Goutières syndrome (PMID: 19525956, 20358604, 25604658). ClinVar contains an entry for this variant (Variation ID: 4067). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002476923 SCV002775895 pathogenic Aicardi-Goutieres syndrome 5; Chilblain lupus 2 2022-03-01 criteria provided, single submitter clinical testing
GeneDx RCV004700185 SCV005201558 pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing Observed with a pathogenic SAMHD1 variant in siblings with Aicardi-Goutieres syndrome, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Dale et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 31130284, 19525956, 22461318, 20842748, 27943079, 20358604, 25604658)
OMIM RCV000004282 SCV000024448 pathogenic Aicardi-Goutieres syndrome 5 2010-04-01 no assertion criteria provided literature only
GeneReviews RCV000004282 SCV000147932 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only
Natera, Inc. RCV001826413 SCV002091006 pathogenic Aicardi Goutieres syndrome 2020-12-07 no assertion criteria provided clinical testing

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