ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.473A>T (p.Asp158Val) (rs1565648789)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703817 SCV000832738 uncertain significance Multiple endocrine neoplasia, type 1 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 153 of the MEN1 protein (p.Asp153Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with familial isolated hyperparathyroidism (FIHP) (PMID: 12699448), and an individual who underwent genetic testing for multiple endocrine neoplasia type 1 (MEN1) (PMID: 15670192). Experimental studies have shown that this missense change results in decreased protein stability of MEN1 (PMID: 21819486). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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