ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)

gnomAD frequency: 0.00003  dbSNP: rs891027780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889187 SCV002166057 uncertain significance Familial aplasia of the vermis 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1110 of the AHI1 protein (p.Thr1110Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. 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.
GeneDx RCV002275274 SCV002562615 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478262 SCV002785225 uncertain significance Joubert syndrome 3 2021-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553538 SCV003652777 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.3329C>T (p.T1110I) alteration is located in exon 25 (coding exon 23) of the AHI1 gene. This alteration results from a C to T substitution at nucleotide position 3329, causing the threonine (T) at amino acid position 1110 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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