ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)

dbSNP: rs776561706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632117 SCV000753221 likely pathogenic Multiple endocrine neoplasia, type 1 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 342 of the MEN1 protein (p.Ala342Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with multiple endocrine neoplasia type 1 (PMID: 14686752, 22470073, 25527055; Invitae). ClinVar contains an entry for this variant (Variation ID: 527265). 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 expected to disrupt MEN1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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