ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)

gnomAD frequency: 0.00031  dbSNP: rs201148693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195696 SCV000255024 likely benign Familial aplasia of the vermis 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248598 SCV000312891 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157001 SCV001318544 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001596984 SCV001830892 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing Reported in the heterozygous state in a parent of a child with JSRD, but did not segregate in the affected child and was concluded to be of unclear significance (Valente et al., 2006); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16453322)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252130 SCV001427880 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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.