ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3073C>G (p.Gln1025Glu)

dbSNP: rs868723363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301917 SCV001491102 uncertain significance Familial aplasia of the vermis 2020-07-30 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with AHI1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1025 of the AHI1 protein (p.Gln1025Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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