ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.539C>T (p.Ala180Val)

dbSNP: rs2133783718
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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 RCV001993534 SCV002256832 uncertain significance Beckwith-Wiedemann syndrome 2021-10-05 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with valine at codon 191 of the CDKN1C protein (p.Ala191Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0").

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