ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)

gnomAD frequency: 0.00023  dbSNP: rs141830680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794675 SCV000934097 uncertain significance STING-associated vasculopathy with onset in infancy 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 359 of the TMEM173 protein (p.Gln359Arg). This variant is present in population databases (rs141830680, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 641434). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine 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 RCV002263983 SCV002542542 likely benign Autoinflammatory syndrome 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003279069 SCV004006819 uncertain significance Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing The c.1076A>G (p.Q359R) alteration is located in exon 8 (coding exon 6) of the TMEM173 gene. This alteration results from a A to G substitution at nucleotide position 1076, causing the glutamine (Q) at amino acid position 359 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692260 SCV005188624 uncertain significance not provided criteria provided, single submitter not provided

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