ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg)

dbSNP: rs1564929381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698846 SCV000827535 uncertain significance Beckwith-Wiedemann syndrome 2021-04-05 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. This variant has not been reported in the literature in individuals with CDKN1C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 248 of the CDKN1C protein (p.Gly248Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002493214 SCV002778896 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-12-03 criteria provided, single submitter clinical testing

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