ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr)

dbSNP: rs750471213
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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 RCV001930422 SCV002194155 uncertain significance Developmental and epileptic encephalopathy, 36 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 879 of the ALG13 protein (p.His879Tyr). This variant is present in population databases (rs750471213, gnomAD 0.006%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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