ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.1949G>A (p.Arg650His)

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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004787204 SCV005398595 uncertain significance Synpolydactyly type 2 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_006486.2(FBLN1):c.1949G>A, has been identified in exon 16 of 17 of the FBLN1 gene. The variant is predicted to result in a minor amino acid change from arginine to histidine at position 650 of the protein (NP_006477.2(FBLN1):p.(Arg650His). The arginine residue at this position has low conservation (100 vertebrates, UCSC), but is not located within a well established functional domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.0011% (3 heterozygotes). This variant has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with LOW CLINICAL RELEVANCE.

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.