ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.590G>A (p.Arg197Gln)

gnomAD frequency: 0.00001  dbSNP: rs760564156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652340 SCV000774210 uncertain significance STING-associated vasculopathy with onset in infancy 2017-10-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TMEM173-related disease. This variant is present in population databases (rs760564156, ExAC 0.009%). This sequence change replaces arginine with glutamine at codon 197 of the TMEM173 protein (p.Arg197Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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