ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His)

gnomAD frequency: 0.00030  dbSNP: rs139849372
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
GeneDx RCV001568675 SCV001792589 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001568675 SCV002355656 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568448 SCV003742672 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.3686G>A (p.R1229H) alteration is located in exon 8 (coding exon 7) of the DCHS1 gene. This alteration results from a G to A substitution at nucleotide position 3686, causing the arginine (R) at amino acid position 1229 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003985508 SCV004118150 uncertain significance DCHS1-related disorder 2023-02-08 criteria provided, single submitter clinical testing The DCHS1 c.3686G>A variant is predicted to result in the amino acid substitution p.Arg1229His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-6652628-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.