ClinVar Miner

Submissions for variant NM_001080453.3(INTS1):c.616G>C (p.Val206Leu)

gnomAD frequency: 0.00001  dbSNP: rs370240975
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
New York Genome Center RCV001281494 SCV001468803 uncertain significance Dandy-Walker syndrome; Global developmental delay 2019-09-13 criteria provided, single submitter clinical testing The inherited c.616G>C (p.Val206Leu) variant identified in the INTS1 gene substitutes a completely conserved Valine for Leucine at amino acid 206/2191 (coding exon 5/48). This variant is found with low frequency in gnomAD (1 heterozygote, 0 homozygotes; allele frequency: 4.03e-6), and is absent from ExAC, suggesting it is not a common benign variant in the populations represented in these databases. In silico algorithms do not agree on the effect of this variant, as it is predicted both Neutral (Provean; score: -1.74) and Damaging (SIFT; score: 0.019) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literauture. Given the lack of compelling evidence supporting its pathogenicity, the c.616G>C (p.Val206Leu) variant identified in the INTS1 gene is reported here as a Variant of Uncertain Significiance.

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.