ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.155T>G (p.Met52Arg)

gnomAD frequency: 0.00037  dbSNP: rs543122580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547886 SCV000646195 likely benign Multiple endocrine neoplasia type 4 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567439 SCV000673219 benign Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Sema4, Sema4 RCV000567439 SCV002535471 likely benign Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter curation
GeneDx RCV003151786 SCV003840445 uncertain significance not provided 2023-10-23 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
PreventionGenetics, part of Exact Sciences RCV003935474 SCV004760404 likely benign CDKN1B-related disorder 2022-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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