ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)

gnomAD frequency: 0.00001  dbSNP: rs776098993
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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 RCV001044384 SCV001208178 uncertain significance Familial aplasia of the vermis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1195 of the AHI1 protein (p.Ile1195Val). This variant is present in population databases (rs776098993, gnomAD 0.003%). 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: 842041). 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. 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 RCV001788407 SCV002030906 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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 RCV002481912 SCV002788261 uncertain significance Joubert syndrome 3 2022-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243420 SCV003964493 uncertain significance Inborn genetic diseases 2023-03-21 criteria provided, single submitter clinical testing The c.3583A>G (p.I1195V) alteration is located in exon 27 (coding exon 25) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 3583, causing the isoleucine (I) at amino acid position 1195 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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