Submissions for variant NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001047905	SCV001211889	uncertain significance	Beckwith-Wiedemann syndrome	2019-10-20	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 44 of the CDKN1C protein (p.Arg44Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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