ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) (rs201148693)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195696 SCV000255024 uncertain significance Joubert syndrome 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1140 of the AHI1 protein (p.Pro1140Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs201148693, ExAC 0.1%). This variant has not been reported in the literature in individuals with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 216697). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
PreventionGenetics,PreventionGenetics RCV000248598 SCV000312891 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
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

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