ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.834+3A>G

gnomAD frequency: 0.00002  dbSNP: rs370066652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350119 SCV001544497 uncertain significance Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 5 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1045671). 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 may disrupt the consensus splice site. 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 RCV001751685 SCV001986594 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001751685 SCV002568191 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing PM2
Fulgent Genetics, Fulgent Genetics RCV001350119 SCV002790162 uncertain significance Developmental and epileptic encephalopathy, 36 2021-11-27 criteria provided, single submitter clinical testing

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