ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.215C>A (p.Pro72His)

gnomAD frequency: 0.00003  dbSNP: rs878856863
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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 RCV000695116 SCV000823596 uncertain significance Multiple endocrine neoplasia, type 1 2024-06-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 72 of the MEN1 protein (p.Pro72His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with multiple endocrine neoplasia type 1 (PMID: 23334809). ClinVar contains an entry for this variant (Variation ID: 573444). 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 with a positive predictive value of 95%. 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.
Ambry Genetics RCV002422524 SCV002724649 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-01 criteria provided, single submitter clinical testing The p.P72H variant (also known as c.215C>A), located in coding exon 1 of the MEN1 gene, results from a C to A substitution at nucleotide position 215. The proline at codon 72 is replaced by histidine, an amino acid with similar properties. This nucleotide position is highly 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 RCV000695116 SCV005060798 uncertain significance Multiple endocrine neoplasia, type 1 2024-03-22 criteria provided, single submitter clinical testing

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