ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)

gnomAD frequency: 0.00001  dbSNP: rs1242697341
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003414195 SCV004107280 uncertain significance CHD7-related disorder 2022-08-30 criteria provided, single submitter clinical testing The CHD7 c.3979A>G variant is predicted to result in the amino acid substitution p.Ile1327Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61748832-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497998 SCV004273613 likely benign CHARGE syndrome 2025-01-15 criteria provided, single submitter clinical testing

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.