ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr)

gnomAD frequency: 0.00004  dbSNP: rs761596435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361005 SCV001556962 uncertain significance Familial aplasia of the vermis 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 680 of the AHI1 protein (p.Ile680Thr). This variant is present in population databases (rs761596435, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052760). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002476647 SCV002781013 uncertain significance Joubert syndrome 3 2021-07-28 criteria provided, single submitter clinical testing

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