ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)

gnomAD frequency: 0.00001  dbSNP: rs764518030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234068 SCV001406694 likely benign CHARGE syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001556066 SCV001777580 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33270637)
New York Genome Center RCV001234068 SCV002097898 uncertain significance CHARGE syndrome 2021-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908453 SCV004734799 uncertain significance CHD7-related disorder 2023-11-16 no assertion criteria provided clinical testing The CHD7 c.1696C>G variant is predicted to result in the amino acid substitution p.Pro566Ala. This variant was reported in an individual with pituitary stalk interruption syndrome (Brauner et al. 2020. PubMed ID: 33270637) and in an individual with a disorder of sexual development (Table S1, Zidoune et al. 2022. PubMed ID: 36110220). This variant is reported in 0.0035% of alleles in individuals of Latino descent in gnomAD, which may be too common to be a cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.