ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)

gnomAD frequency: 0.00001  dbSNP: rs781223072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047924 SCV001211908 uncertain significance Aicardi-Goutieres syndrome 5 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 188 of the SAMHD1 protein (p.Glu188Gln). This variant is present in population databases (rs781223072, 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: 844951). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Natera, Inc. RCV001827304 SCV002090997 uncertain significance Aicardi Goutieres syndrome 2020-03-13 no assertion criteria provided clinical testing

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