ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg)

dbSNP: rs927961674
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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 RCV001361376 SCV001557351 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 765 of the ALG13 protein (p.Cys765Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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