ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)

dbSNP: rs774646647
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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 RCV000816649 SCV000957166 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 181 of the ALG13 protein (p.Thr181Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). 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 serine 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.

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