ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn)

dbSNP: rs2128077525
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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 RCV001959734 SCV002213538 uncertain significance Familial aplasia of the vermis 2021-04-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 405 of the AHI1 protein (p.Thr405Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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 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 RCV002560730 SCV003672792 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1214C>A (p.T405N) alteration is located in exon 9 (coding exon 7) of the AHI1 gene. This alteration results from a C to A substitution at nucleotide position 1214, causing the threonine (T) at amino acid position 405 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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