ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.820+1G>A (rs1554937699)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554484 SCV000623184 uncertain significance Beckwith-Wiedemann syndrome 2017-04-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the intron before the final coding exon (intron 1) of the CDKN1C gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant has not been reported in the literature in individuals with a CDKN1C-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel splice site change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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