ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.476-2_491del

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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 RCV002847797 SCV003225349 uncertain significance Multiple endocrine neoplasia type 4 2024-05-23 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 2 (c.476-2_491del) of the CDKN1B gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. 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. ClinVar contains an entry for this variant (Variation ID: 2024580). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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