ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1225G>C (p.Asp409His)

dbSNP: rs940730126
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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 RCV002001668 SCV002272207 uncertain significance Developmental and epileptic encephalopathy, 36 2021-10-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, a(n) acidic and polar amino acid, with histidine, a(n) basic and polar amino acid, at codon 409 of the ALG13 protein (p.Asp409His).

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