ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.295G>T (p.Ala99Ser)

gnomAD frequency: 0.00001  dbSNP: rs1848965651
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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 RCV002016445 SCV002298060 uncertain significance Beckwith-Wiedemann syndrome 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 110 of the CDKN1C protein (p.Ala110Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. 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 variant has not been reported in the literature in individuals with CDKN1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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