ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.350A>T (p.His117Leu)

gnomAD frequency: 0.00004  dbSNP: rs754497897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525783 SCV000652520 uncertain significance Developmental and epileptic encephalopathy, 36 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 13 of the ALG13 protein (p.His13Leu). This variant is present in population databases (rs754497897, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. ClinVar contains an entry for this variant (Variation ID: 473116). 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: "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.
GeneDx RCV002286758 SCV002577286 uncertain significance not provided 2022-09-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002456227 SCV002613685 uncertain significance Inborn genetic diseases 2019-01-31 criteria provided, single submitter clinical testing The p.H117L variant (also known as c.350A>T), located in coding exon 3 of the ALG13 gene, results from an A to T substitution at nucleotide position 350. The histidine at codon 117 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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