ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.799A>C (p.Lys267Gln)

dbSNP: rs387907226
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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 RCV002039761 SCV002114935 uncertain significance Beckwith-Wiedemann syndrome 2021-05-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 278 of the CDKN1C protein (p.Lys278Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. 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. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDKN1C-related conditions.

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