ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.773C>T (p.Ser258Leu) (rs386134259)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460727 SCV000541209 likely pathogenic Multiple endocrine neoplasia, type 1 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 253 of the MEN1 protein (p.Ser253Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. 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: 17623761, 20660572, Invitae). ClinVar contains an entry for this variant (Variation ID: 201012). This variant has been reported to affect MEN1 protein function (PMID: 21819486). 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.
Ambry Genetics RCV000491434 SCV000579696 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-16 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;Other data supporting pathogenic classification

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