ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) (rs863225135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201566 SCV000256257 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091216 SCV001247114 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001240194 SCV001413119 uncertain significance Joubert syndrome 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 896 of the AHI1 protein (p.His896Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Joubert syndrome or non-syndromic retinal dystrophy (PMID: 16155189, 28442542). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217532). 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.

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