ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)

gnomAD frequency: 0.00001  dbSNP: rs1389398299
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Total submissions: 3
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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

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