ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) (rs794728616)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491203 SCV000579641 likely pathogenic Hereditary cancer-predisposing syndrome 2019-07-29 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Structural Evidence
Invitae RCV000632104 SCV000753208 likely pathogenic Multiple endocrine neoplasia, type 1 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 38 of the MEN1 protein (p.Ser38Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with multiple endocrine neoplasia type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 200971). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Center for Human Genetics, Inc RCV000632104 SCV000781718 likely pathogenic Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing

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