ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.452C>T (p.Ala151Val)

dbSNP: rs1060500008
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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 RCV000464175 SCV000541278 uncertain significance Developmental and epileptic encephalopathy, 36 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 151 of the ALG13 protein (p.Ala151Val). 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. ClinVar contains an entry for this variant (Variation ID: 403877). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526675 SCV005039159 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing Variant summary: ALG13 c.452C>T (p.Ala151Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 178363 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.452C>T in individuals affected with Epileptic Encephalopathy, Early Infantile, 36 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 403877). Based on the evidence outlined above, the variant was classified as uncertain significance.

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