ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.25G>T (p.Val9Phe)

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 RCV002472195 SCV002769272 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001080517.2(SETD5):c.25G>T in exon 3 of 23 of the SETD5 gene. (NB: this variant is non-coding in alternative transcripts). This substitution is predicted to create a minor amino acid change from a valine to a phenylalanine at position 9 of the protein; NP_001073986.1(SETD5):p.(Val9Phe). The valine at this position has high conservation (100 vertebrates, UCSC), but is not situated in a known functional domain (NCBI, PDB). In silico software predicts this variant to be damaging (PolyPhen2, SIFT, CADD, Mutation Taster). The variant is not present in the gnomAD population database and this variant has not previously been reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VUS.

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.