ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)

dbSNP: rs515726140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000114346 SCV003443371 uncertain significance Aicardi-Goutieres syndrome 5 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 385 of the SAMHD1 protein (p.Met385Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 19525956). ClinVar contains an entry for this variant (Variation ID: 126405). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SAMHD1 function (PMID: 28229507). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneReviews RCV000114346 SCV000147922 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

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