Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851542 | SCV002116016 | uncertain significance | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 312 of the SIAE protein (p.Thr312Met). This variant is present in population databases (rs144510878, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with autoimmune disorders (PMID: 20555325, 22257840, 23011869). ClinVar contains an entry for this variant (Variation ID: 1350). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects SIAE function (PMID: 20555325). 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. |
| OMIM | RCV000001415 | SCV000021565 | risk factor | Autoimmune disease, susceptibility to, 6 | 2010-07-08 | no assertion criteria provided | literature only |