ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) (rs863225144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817125 SCV000957670 uncertain significance Joubert syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 725 of the AHI1 protein (p.Trp725Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Joubert syndrome (PMID: 16155189, 26092869). ClinVar contains an entry for this variant (Variation ID: 217545). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
UW Hindbrain Malformation Research Program,University of Washington RCV000201537 SCV000256271 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research

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