Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002028876 | SCV002290300 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2021-07-11 | 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. This sequence change replaces alanine with serine at codon 91 of the MEN1 protein (p.Ala91Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MEN1 protein function. |
| Ambry Genetics | RCV003170568 | SCV003860266 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-25 | criteria provided, single submitter | clinical testing | The p.A91S variant (also known as c.271G>T), located in coding exon 1 of the MEN1 gene, results from a G to T substitution at nucleotide position 271. The alanine at codon 91 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |