ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.406_407insGTGG (p.Asp136fs)

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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 RCV005195805 SCV005839126 uncertain significance Multiple endocrine neoplasia type 4 2024-10-02 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CDKN1B gene (p.Asp136Glyfs*70). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acid(s) of the CDKN1B protein and extend the protein by 6 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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