ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2529+6C>G

gnomAD frequency: 0.00005  dbSNP: rs1569520797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827320 SCV000968958 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001858420 SCV002174589 uncertain significance Developmental and epileptic encephalopathy, 36 2022-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the ALG13 gene. It does not directly change the encoded amino acid sequence of the ALG13 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD 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: 668431). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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