ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) (rs199578341)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445026 SCV000531336 uncertain significance not specified 2017-10-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the AHI1 gene. The E1168G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project reports E1168G was observed in 25/8242 (0.3%) alleles from individuals of European background, and the 1000 Genomes Project reports E1168G was observed in 1/198 (0.5%) alleles from individuals of Western European ancestry living in Utah. The E1168G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000701724 SCV000830537 likely benign Joubert syndrome 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764640 SCV000895748 uncertain significance Joubert syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000764640 SCV001318543 uncertain significance Joubert syndrome 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252129 SCV001427879 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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