ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.1049C>T (p.Ala350Val)

gnomAD frequency: 0.00002  dbSNP: rs143322684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756665 SCV001986256 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002241575 SCV002507862 uncertain significance STING-associated vasculopathy with onset in infancy 2023-05-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 350 of the TMEM173 protein (p.Ala350Val). This variant is present in population databases (rs143322684, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. ClinVar contains an entry for this variant (Variation ID: 1303166). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264386 SCV002543035 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing

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