ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2442+1G>T

dbSNP: rs1085307582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489857 SCV000576765 pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing The c.2442+1G>T pathogenic variant in the CHD7 gene has been reported previously in an individual with an intellectual disability (Grozeva et al., 2015). This splice site variant destroys the canonical splice donor site in intron 6, which is predicted to cause abnormal gene splicing. The c.2442+1G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2442+1G>T as a pathogenic variant.

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