ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)

gnomAD frequency: 0.00002  dbSNP: rs760560180
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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 RCV000702133 SCV000830971 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 492 of the ALG13 protein (p.Gln492His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs760560180, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ALG13-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 histidine 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.
Fulgent Genetics, Fulgent Genetics RCV000702133 SCV002780684 uncertain significance Developmental and epileptic encephalopathy, 36 2022-03-28 criteria provided, single submitter clinical testing
GeneDx RCV004777848 SCV005389967 uncertain significance not provided 2024-04-20 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

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