ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)

gnomAD frequency: 0.00016  dbSNP: rs373014753
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001040154 SCV001203715 uncertain significance Familial aplasia of the vermis 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 744 of the AHI1 protein (p.Lys744Arg). This variant is present in population databases (rs373014753, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838579). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AHI1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002489566 SCV002784430 uncertain significance Joubert syndrome 3 2022-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551462 SCV003695150 uncertain significance Inborn genetic diseases 2021-08-19 criteria provided, single submitter clinical testing The c.2231A>G (p.K744R) alteration is located in exon 15 (coding exon 13) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 2231, causing the lysine (K) at amino acid position 744 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004794479 SCV005414750 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15467982)

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.