ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.847G>C (p.Ala283Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801322 SCV000941095 uncertain significance Beckwith-Wiedemann syndrome 2018-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 283 of the CDKN1C protein (p.Ala283Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. 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 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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