ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.2891C>T (p.Ala964Val)

dbSNP: rs1471812228
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
Illumina Laboratory Services, Illumina RCV001095733 SCV001251574 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2020-02-26 criteria provided, single submitter clinical testing The TRIO c.2891C>T (p.Ala964Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000163 in the Other population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Ala964Val variant is classified as a variant of unknown significance for TRIO-related intellectual disability.

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.