Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220308 | SCV001392288 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2022-08-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 948950). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MAX-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 141 of the MAX protein (p.Ser141Thr). |
Ambry Genetics | RCV003363179 | SCV004053881 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-01 | criteria provided, single submitter | clinical testing | The p.S141T variant (also known as c.422G>C), located in coding exon 5 of the MAX gene, results from a G to C substitution at nucleotide position 422. The serine at codon 141 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |