ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.594_596delinsTGTTT (p.Ter199ValextTer?)

dbSNP: rs1592281823
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809824 SCV000950003 uncertain significance Multiple endocrine neoplasia type 4 2018-11-15 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the CDKN1B mRNA. It is expected to extend the length of the CDKN1B protein by 1 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1B-related disease. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown.

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