ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.206C>T (p.Pro69Leu) (rs777354267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000162207 SCV001395064 uncertain significance Multiple endocrine neoplasia, type 4 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 69 of the CDKN1B protein (p.Pro69Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs777354267, ExAC 0.001%). This variant has been observed in an individual affected with multiple endocrine tumors (PMID: 20824794). ClinVar contains an entry for this variant (Variation ID: 183393). This variant has been reported to affect CDKN1B protein function (PMID: 20824794). 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.
OMIM RCV000162207 SCV000212164 pathogenic Multiple endocrine neoplasia, type 4 2010-11-01 no assertion criteria provided literature only

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