ClinVar Miner

Submissions for variant NM_001281740.3(FHOD3):c.1943T>C (p.Ile648Thr)

gnomAD frequency: 0.00007  dbSNP: rs144993045
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
Illumina Laboratory Services, Illumina RCV001095747 SCV001251590 uncertain significance Hypertrophic cardiomyopathy 7 2020-01-23 criteria provided, single submitter clinical testing The FHOD3 c.1943T>C (p.Ile648Thr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000140 in the European (non-Finnish) population of the Genome Aggregation Database. The p.Ile648Thr variant is located in the coiled-coil region of the protein, which is conserved and has been identified by Ochoa et al. (2018) as a region with clinically significant variants. Based on the limited evidence, the p.Ile648Thr variant is classified as a variant of unknown significance for hypertrophy cardiomyopathy.
CeGaT Center for Human Genetics Tuebingen RCV003883549 SCV004702812 uncertain significance not provided 2024-02-01 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.