ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)

gnomAD frequency: 0.00001  dbSNP: rs755046462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241153 SCV001414148 uncertain significance Aicardi-Goutieres syndrome 5 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 333 of the SAMHD1 protein (p.Arg333His). This variant is present in population databases (rs755046462, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SAMHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966467). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003311966 SCV004011335 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing SAMHD1: PM2
Natera, Inc. RCV001828970 SCV002090988 uncertain significance Aicardi Goutieres syndrome 2020-01-08 no assertion criteria provided clinical testing

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