ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.773C>G (p.Ser258Trp) (rs386134259)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470590 SCV000541219 likely pathogenic Multiple endocrine neoplasia, type 1 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces serine with tryptophan at codon 253 of the MEN1 protein (p.Ser253Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of multiple endocrine neoplasia type 1 (PMID: 11034102, Invitae). ClinVar contains an entry for this variant (Variation ID: 403831). This variant has been reported to affect MEN1 protein function (PMID: 21819486). This variant disrupts the p.Ser253 amino acid residue in MEN1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17623761, 20660572, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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