ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.164_165delinsTA (p.Ala55Val)

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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 RCV003509406 SCV004311011 uncertain significance Multiple endocrine neoplasia type 4 2023-05-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 55 of the CDKN1B protein (p.Ala55Val).

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