ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln) (rs754671425)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558836 SCV000623150 uncertain significance Beckwith-Wiedemann syndrome 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 148 of the CDKN1C protein (p.Pro148Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. The frequency data for this variant in the population databases is considered 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. ClinVar contains an entry for this variant (Variation ID: 454001). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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