ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1646G>A (p.Gly549Asp)

gnomAD frequency: 0.00001  dbSNP: rs746217229
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
Ambry Genetics RCV003012800 SCV003724513 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1646G>A (p.G549D) alteration is located in exon 7 (coding exon 7) of the DDHD1 gene. This alteration results from a G to A substitution at nucleotide position 1646, causing the glycine (G) at amino acid position 549 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004779475 SCV005391713 uncertain significance not provided 2024-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.