ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062416 SCV001227214 uncertain significance Beckwith-Wiedemann syndrome 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 261 of the CDKN1C protein (p.Gly261Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs768242627, ExAC 0.04%). 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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