ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys)

gnomAD frequency: 0.00001  dbSNP: rs1219035683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752264 SCV001988297 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882844 SCV002237325 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1066 of the ALG13 protein (p.Tyr1066Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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: "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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