ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.770C>G (p.Ala257Gly) (rs878853642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227798 SCV000283430 uncertain significance Beckwith-Wiedemann syndrome 2015-12-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 257 of the CDKN1C protein (p.Ala257Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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