ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

gnomAD frequency: 0.00037  dbSNP: rs188583221
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608290 SCV000723629 likely benign not provided 2020-05-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24690944, 28863211)
Labcorp Genetics (formerly Invitae), Labcorp RCV000861193 SCV001001443 likely benign Familial aplasia of the vermis 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157000 SCV001318542 uncertain significance Joubert syndrome 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003980163 SCV004790396 likely benign AHI1-related disorder 2022-10-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.