ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.464C>G (p.Pro155Arg)

gnomAD frequency: 0.00003  dbSNP: rs143879243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699732 SCV000828456 uncertain significance Multiple endocrine neoplasia type 4 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 155 of the CDKN1B protein (p.Pro155Arg). This variant is present in population databases (rs143879243, gnomAD 0.01%). 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: 577071). 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 disruptive. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002293475 SCV002009972 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV002293475 SCV002586707 uncertain significance not provided 2024-11-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002332475 SCV002633679 likely benign Hereditary cancer-predisposing syndrome 2022-05-26 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.
Fulgent Genetics, Fulgent Genetics RCV000699732 SCV005634200 uncertain significance Multiple endocrine neoplasia type 4 2024-04-30 criteria provided, single submitter clinical testing

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