ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)

gnomAD frequency: 0.00001  dbSNP: rs1234385710
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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 RCV000803194 SCV000943056 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 540 of the ALG13 protein (p.Ala540Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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: "Tolerated"; 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.
Ambry Genetics RCV002388496 SCV002703216 uncertain significance Inborn genetic diseases 2018-06-20 criteria provided, single submitter clinical testing The p.A540V variant (also known as c.1619C>T), located in coding exon 15 of the ALG13 gene, results from a C to T substitution at nucleotide position 1619. The alanine at codon 540 is replaced by valine, 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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