ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)

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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 RCV003652616 SCV004449524 uncertain significance Developmental and epileptic encephalopathy, 36 2023-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG13-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 22 of the ALG13 protein (p.Ala22Glu).

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