ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)

gnomAD frequency: 0.00008  dbSNP: rs768184220
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300836 SCV000334128 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Invitae RCV001082628 SCV000562410 likely benign CHARGE association 2023-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624519 SCV000742284 uncertain significance Inborn genetic diseases 2017-04-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Revvity Omics, Revvity RCV000300836 SCV003831964 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920052 SCV004729887 uncertain significance CHD7-related condition 2024-01-06 criteria provided, single submitter clinical testing The CHD7 c.3241A>G variant is predicted to result in the amino acid substitution p.Ile1081Val. To our knowledge, this variant has not been reported in the literature, but has conflicting interpretations in ClinVar regarding its pathogenicity, ranging from likely benign to variant of uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/282588/evidence/). This variant is reported in a single heterozygous individual of the "Other" population in gnomAD. An alternate missense alteration at the same amino acid position is classified as Likely Pathogenic in ClinVar by two submitters, with both cases marked as affected individuals, and one case marked as a de novo finding (https://www.ncbi.nlm.nih.gov/clinvar/variation/267424/?oq=267424&m=NM_017780.4(CHD7):c.3241A%3ET%20(p.Ile1081Phe)). 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.