ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)

dbSNP: rs1559155800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000778118 SCV000854651 likely pathogenic 3M syndrome 1 2015-12-18 no assertion criteria provided clinical testing A 10 year-old-Turkish male skeletal dysplasia patient was homozygous for c.1187G>A (p.Arg396His) variant in OBSL1. There was parental consanguinity. Patient was carrying some of the characteristic features of 3-M syndrome but not presenting typical facial features. This c.1187G>A (p.Arg396His) novel missense variant is located in the 4th Ig-like domain of OBSL1 and resides in the second exon of transcript NM_015311.3. This variant was predicted to affect all validated isoforms of OBSL1. Besides, the p.Arg396His variant was predicted as "Damaging" or "Disease causing" by four different mutation pathogenicity prediction tools (MutationTaster, PolyPhen2, PROVEAN and SIFT). CADD score for this variant was 28.4 and multiple sequence alignment revealed that the Arginine at position 396 is highly conserved across multiple species. This genetic change was not present in our in-house database established within "Hacettepe Exome Project" which comprises 410 clinically unrelated Turkish individuals. In summary, the c.1187G>A (p.Arg396His) variant meets our criteria to be classified as "Likely pathogenic".

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.