ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.288+4A>G

dbSNP: rs2100841130
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002006071 SCV002268907 uncertain significance Congenital myasthenic syndrome 15 2021-08-25 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the ALG14 gene. It does not directly change the encoded amino acid sequence of the ALG14 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALG14-related conditions. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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 RCV002592558 SCV003628647 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.288+4A>G intronic alteration results from an A to G substitution 4 nucleotides after coding exon 2 in the ALG14 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002006071 SCV004049485 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348719 SCV004049486 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348720 SCV004049487 uncertain significance Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.