ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)

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 RCV002472205 SCV002769289 uncertain significance Congenital cataracts-facial dysmorphism-neuropathy syndrome 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_004715.4(CTDP1):c.1915A>G in exon 8 of 13 of the CTDP1 gene. This substitution is predicted to create a minor amino acid change from an isoleucine to a valine at position 639 of the protein, NP_004706.3(CTDP1):p.(Ile639Val). The isoleucine at this position has low conservation (100 vertebrates, UCSC), and is located within the BRCT domain. In silico software predicts this variant to be benign (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD population database at a frequency of 0.003% (6 heterozygotes, 0 homozygotes) and has not been previously observed in clinical cases. Based on 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.