Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018488 | SCV001179734 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-11 | criteria provided, single submitter | clinical testing | The p.D297G variant (also known as c.890A>G), located in coding exon 5 of the MEN1 gene, results from an A to G substitution at nucleotide position 890. The aspartic acid at codon 297 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Invitae | RCV001212724 | SCV001384318 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2023-06-27 | 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MEN1 protein function. ClinVar contains an entry for this variant (Variation ID: 822810). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 297 of the MEN1 protein (p.Asp297Gly). |