ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820230 SCV000960935 uncertain significance Multiple endocrine neoplasia, type 4 2019-11-03 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 0.002%). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 662565). 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 RCV001012076 SCV001172484 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing Insufficient evidence

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