ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.43C>T (p.Arg15Trp) (rs2066828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540605 SCV000646220 uncertain significance Multiple endocrine neoplasia, type 4 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 15 of the CDKN1B protein (p.Arg15Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs2066828, ExAC 0.002%). This variant has not been reported in the literature in individuals with CDKN1B-related disease. ClinVar contains an entry for this variant (Variation ID: 469026). 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.
Ambry Genetics RCV001022424 SCV001184157 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-01 criteria provided, single submitter clinical testing Insufficient evidence

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