ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5665+1G>A

dbSNP: rs2488024296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003926816 SCV004745710 pathogenic CHD7-related disorder 2023-10-27 no assertion criteria provided clinical testing The CHD7 c.5665+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Another variant at the same nucleotide has been reported in at least two individuals with intellectual disability and/or CHARGE syndrome (Table S3, Grozeva et al. 2015. PubMed ID: 26350204; Villate et al. 2018. PubMed ID: 29434620). Variants that disrupt the consensus splice donor site in CHD7 are expected to be pathogenic. This variant is interpreted as pathogenic.

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