ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.283C>G (p.Pro95Ala)

dbSNP: rs188579132
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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 RCV000875388 SCV001017705 likely benign Multiple endocrine neoplasia type 4 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016579 SCV001177545 benign Hereditary cancer-predisposing syndrome 2023-01-30 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 RCV001016579 SCV002535481 likely benign Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478560 SCV004220753 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing
GeneDx RCV003478560 SCV005081015 uncertain significance not provided 2023-06-06 criteria provided, single submitter clinical testing 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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