ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.832G>T (p.Gly278Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209100 SCV001380521 uncertain significance Beckwith-Wiedemann syndrome 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 289 of the CDKN1C protein (p.Gly289Cys). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and cysteine. 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. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. 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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