ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1641A>T (p.Gln547His)

dbSNP: rs768589790
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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 RCV001940155 SCV002184225 uncertain significance Developmental and epileptic encephalopathy, 36 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 547 of the ALG13 protein (p.Gln547His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with ALG13-related conditions (PMID: 27781031). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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