ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3217C>A (p.His1073Asn)

gnomAD frequency: 0.00006  dbSNP: rs374945386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943730 SCV002188791 uncertain significance Familial aplasia of the vermis 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1073 of the AHI1 protein (p.His1073Asn). This variant is present in population databases (rs374945386, 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: 1421189). 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 RCV004797972 SCV005419679 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15467982)
Fulgent Genetics, Fulgent Genetics RCV005031899 SCV005666765 uncertain significance Joubert syndrome 3 2024-05-01 criteria provided, single submitter clinical testing

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