ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004286 SCV001586765 pathogenic Aicardi-Goutieres syndrome 5 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln548*) 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 (rs121434519, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutières syndrome (PMID: 19525956, 20131292). ClinVar contains an entry for this variant (Variation ID: 4071). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004286 SCV000024452 pathogenic Aicardi-Goutieres syndrome 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000004286 SCV000147927 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

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