ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)

dbSNP: rs1602745141
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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 RCV000808817 SCV000948939 uncertain significance Developmental and epileptic encephalopathy, 36 2020-03-06 criteria provided, single submitter clinical testing 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"). 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 has not been reported in the literature in individuals with ALG13-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 632 of the ALG13 protein (p.Thr632Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine.

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