ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.874C>G (p.Pro292Ala) (rs1564928669)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703632 SCV000832541 uncertain significance Beckwith-Wiedemann syndrome 2018-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 292 of the CDKN1C protein (p.Pro292Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality 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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