ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.352G>A (p.Val118Met)

gnomAD frequency: 0.00002  dbSNP: rs1060499975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472854 SCV000541182 likely benign Multiple endocrine neoplasia, type 1 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339107 SCV002619047 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-10 criteria provided, single submitter clinical testing The p.V118M variant (also known as c.352G>A), located in coding exon 1 of the MEN1 gene, results from a G to A substitution at nucleotide position 352. The valine at codon 118 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003899901 SCV004714487 uncertain significance MEN1-related disorder 2023-11-10 no assertion criteria provided clinical testing The MEN1 c.352G>A variant is predicted to result in the amino acid substitution p.Val118Met. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been interpreted in ClinVar as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/403804/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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