ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.3179+1G>T

dbSNP: rs2147185256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV001726534 SCV001571542 pathogenic Intellectual disability, autosomal dominant 45 criteria provided, single submitter clinical testing Detected one abnormal splicing event induced by the c.452+1G>T variant, use of a cryptic 5’-splice site in exon 3 (r.359_452del). This event causes a frameshift encoding 53 missense amino acids and a premature termination codon (p.(Gly120Alafs*54)). These transcripts are predicted to be targeted by NMD. Any mis-spliced transcripts that escape NMD encode CIC protein lacking 1,489 amino acids from the C-terminus, including the high mobility group box domain.
Ambry Genetics RCV002550198 SCV003569669 pathogenic Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.452+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 3 of the CIC gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, this alteration is classified as pathogenic.

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