ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.154A>C (p.Met52Leu) (rs760647541)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538117 SCV000646194 uncertain significance Multiple endocrine neoplasia, type 4 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 52 of the CDKN1B protein (p.Met52Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs760647541, ExAC 0.05%). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000575930 SCV000673232 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091144 SCV001247015 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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