ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys)

dbSNP: rs2133785693
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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 RCV001886476 SCV002149971 uncertain significance Beckwith-Wiedemann syndrome 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 79 of the CDKN1C protein (p.Trp79Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of Beckwith-Wiedemann syndrome (PMID: 34065128). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002482635 SCV002788904 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-03-12 criteria provided, single submitter clinical testing

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