ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224950 SCV001397180 pathogenic Multiple endocrine neoplasia, type 1 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 139 of the MEN1 protein (p.His139Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with MEN1-related disease (PMID: 9215689, 30324798, Invitae). ClinVar contains an entry for this variant (Variation ID: 952776). Experimental studies have shown that this variant affects MEN1 protein function (PMID: 12112656, 12509449, 19074834). This variant disrupts the p.His139 amino acid residue in MEN1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 21917868, 12746426, 10617276), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this allele has been classified as Pathogenic.

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