ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg)

dbSNP: rs1848916589
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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 RCV001071775 SCV001237096 uncertain significance Beckwith-Wiedemann syndrome 2019-04-09 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 265 of the CDKN1C protein (p.Lys265Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.

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