ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)

gnomAD frequency: 0.00001  dbSNP: rs757689264
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700837 SCV000829610 benign CHARGE association 2022-12-24 criteria provided, single submitter clinical testing
GeneDx RCV003151808 SCV003840550 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Preventiongenetics, part of Exact Sciences RCV003392537 SCV004119560 uncertain significance CHD7-related condition 2023-06-27 criteria provided, single submitter clinical testing The CHD7 c.1703C>T variant is predicted to result in the amino acid substitution p.Pro568Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0073% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61693596-C-T). 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.