ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001155438 SCV001316864 uncertain significance Joubert syndrome 3 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001300964 SCV001490117 uncertain significance Joubert syndrome 2020-10-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 887 of the AHI1 protein (p.Lys887Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs200355875, ExAC 0.02%). This variant has not been reported in the literature in individuals with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 906338). 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, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572774 SCV001797660 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001572774 SCV001958554 uncertain significance not provided no assertion criteria provided clinical testing

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