ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) (rs765255367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801017 SCV000940766 uncertain significance Beckwith-Wiedemann syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 26 of the CDKN1C protein (p.Arg26Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CDKN1C-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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