ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)

gnomAD frequency: 0.00001  dbSNP: rs886042566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352166 SCV000335065 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859573 SCV002246342 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 218 of the ALG13 protein (p.Asn218Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. 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. ClinVar contains an entry for this variant (Variation ID: 283145). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002365304 SCV002660554 uncertain significance Inborn genetic diseases 2018-06-13 criteria provided, single submitter clinical testing The p.N218D variant (also known as c.652A>G), located in coding exon 4 of the ALG13 gene, results from an A to G substitution at nucleotide position 652. The asparagine at codon 218 is replaced by aspartic acid, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV001859573 SCV002784381 uncertain significance Developmental and epileptic encephalopathy, 36 2022-05-19 criteria provided, single submitter clinical testing

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