ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.542A>G (p.His181Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069023 SCV001234166 likely pathogenic Multiple endocrine neoplasia, type 1 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 181 of the MEN1 protein (p.His181Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of multiple endocrine neoplasia type 1 (PMID: 15714081, 22026581, 25824098). It has also been observed to segregate with disease in related individuals. This variant is also known as p.His182Arg and c.557C>A (p.His186Arg) in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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