ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)

gnomAD frequency: 0.00005  dbSNP: rs775191661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798707 SCV000938334 uncertain significance Developmental and epileptic encephalopathy, 36 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 318 of the ALG13 protein (p.Arg318Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: "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.
GeneDx RCV003322823 SCV004028381 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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