ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238238 SCV001411037 uncertain significance Multiple endocrine neoplasia, type 1 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 447 of the MEN1 protein (p.Phe447Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with parathyroid gland tumor and pituitary adenoma (PMID: 9215689, 22577108). This variant has been reported to have conflicting or insufficient data to determine the effect on MEN1 protein function (PMID: 22090276, 12509449). 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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