ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) (rs773500082)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199390 SCV000255206 uncertain significance Multiple endocrine neoplasia, type 1 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 268 of the MEN1 protein (p.Tyr268Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs773500082, ExAC 0.03%). This variant has not been reported in the literature in individuals with MEN1-related disease. ClinVar contains an entry for this variant (Variation ID: 216819). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mendelics RCV000199390 SCV000838455 uncertain significance Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001027095 SCV001189600 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing Insufficient evidence
Institute of Human Genetics, University of Leipzig Medical Center RCV000199390 SCV001428901 uncertain significance Multiple endocrine neoplasia, type 1 2018-04-17 criteria provided, single submitter clinical testing

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