ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.598G>A (p.Ala200Thr) (rs1060500178)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462042 SCV000541739 uncertain significance Beckwith-Wiedemann syndrome 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 211 of the CDKN1C protein (p.Ala211Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. While this variant is not present in population databases, the frequency information is 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 a CDKN1C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant 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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