Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049265 | SCV001213309 | likely benign | Multiple endocrine neoplasia, type 1 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320278 | SCV002607052 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-30 | criteria provided, single submitter | clinical testing | The p.G110E variant (also known as c.329G>A), located in coding exon 1 of the MEN1 gene, results from a G to A substitution at nucleotide position 329. The glycine at codon 110 is replaced by glutamic acid, an amino acid with similar properties. This alteration was identified in an individual with a clinical diagnosis of multiple endocrine neoplasia type 1 (MEN1) (Jap TS et al. Clin. Endocrinol. (Oxf), 2005 Mar;62:336-42). This amino acid position is not 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. |
Baylor Genetics | RCV001049265 | SCV004194487 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2023-05-24 | criteria provided, single submitter | clinical testing |