ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.37A>G (p.Lys13Glu)

gnomAD frequency: 0.00006  dbSNP: rs763715513
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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 RCV001931266 SCV002201897 uncertain significance Familial aplasia of the vermis 2022-11-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1426382). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. This variant is present in population databases (rs763715513, gnomAD 0.04%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 13 of the AHI1 protein (p.Lys13Glu).
GeneDx RCV004762257 SCV005369149 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005042535 SCV005668548 uncertain significance Joubert syndrome 3 2024-06-14 criteria provided, single submitter clinical testing

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