Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001342592 | SCV001536536 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2021-05-10 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MEN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 568 of the MEN1 protein (p.Thr568Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. |
| Ambry Genetics | RCV004945034 | SCV005449917 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-26 | criteria provided, single submitter | clinical testing | The p.T568S variant (also known as c.1703C>G), located in coding exon 9 of the MEN1 gene, results from a C to G substitution at nucleotide position 1703. The threonine at codon 568 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |