ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.499C>A (p.His167Asn)

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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 RCV002636658 SCV003506316 uncertain significance Familial aplasia of the vermis 2022-07-06 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 167 of the AHI1 protein (p.His167Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. 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.
Ambry Genetics RCV002620571 SCV003708076 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.499C>A (p.H167N) alteration is located in exon 6 (coding exon 4) of the AHI1 gene. This alteration results from a C to A substitution at nucleotide position 499, causing the histidine (H) at amino acid position 167 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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