ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1169C>T (p.Ala390Val) (rs1298484645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632086 SCV000753190 uncertain significance Multiple endocrine neoplasia, type 1 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 385 of the MEN1 protein (p.Ala385Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals with clinical features of MEN1-related disease (PMID: 10849016, 22470073, 14641000). This variant is also known as c.1169C>T (p.Ala390Val) in the literature. ClinVar contains an entry for this variant (Variation ID: 527247). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001010012 SCV001170153 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-02 criteria provided, single submitter clinical testing Insufficient evidence

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