ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.898G>T (p.Ala300Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799545 SCV000939213 uncertain significance Beckwith-Wiedemann syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 300 of the CDKN1C protein (p.Ala300Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs755160554, ExAC 0.04%). This variant has not been reported in the literature in individuals with CDKN1C-related disease. 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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