ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)

dbSNP: rs2147018633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814929 SCV002061854 likely pathogenic Intellectual disability, autosomal dominant 45 2021-05-06 criteria provided, single submitter clinical testing PS2, PS4_Supporting, PM2
PreventionGenetics, part of Exact Sciences RCV003394266 SCV004119744 likely pathogenic CIC-related disorder 2023-11-08 no assertion criteria provided clinical testing The CIC c.1582C>T variant is predicted to result in premature protein termination (p.Arg528*). This variant has been reported as a de novo finding in an individual with autism and cleft lip and palate (Table S5, Yuen et al. 2017. PubMed ID: 28263302). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CIC are expected to be pathogenic. Although this variant is found in an alternative transcript of CIC, other de novo findings in affected individuals along with functional data support the clinical relevance of loss of function changes in this exon (Guo. 2019. PubMed ID: 30504930; Sharma et al. 2022. PubMed ID: 35165976). This variant is interpreted as likely pathogenic.

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