ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.416A>C (p.Gln139Pro)

dbSNP: rs1397997127
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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 RCV001043898 SCV001207667 uncertain significance Familial aplasia of the vermis 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 139 of the AHI1 protein (p.Gln139Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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