Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794675 | SCV000934097 | uncertain significance | STING-associated vasculopathy with onset in infancy | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 641434). This variant is present in population databases (rs141830680, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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). |
Genome Diagnostics Laboratory, |
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. |