ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.485C>T (p.Thr162Ile)

dbSNP: rs774965131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568810 SCV000673231 likely benign Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000807514 SCV000947570 uncertain significance Multiple endocrine neoplasia type 4 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 162 of the CDKN1B protein (p.Thr162Ile). This variant is present in population databases (rs774965131, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 485509). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Sema4, Sema4 RCV000568810 SCV002527681 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-04 criteria provided, single submitter curation
GeneDx RCV003151792 SCV003840566 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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