ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.955+5G>C

gnomAD frequency: 0.00001  dbSNP: rs759508507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351248 SCV001545699 uncertain significance Glycogen storage disease, type II 2020-08-14 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs759508507, ExAC 0.03%). This variant has not been reported in the literature in individuals with GAA-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.
GeneDx RCV004720866 SCV005328110 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770092 SCV005381742 uncertain significance not specified 2024-08-31 criteria provided, single submitter clinical testing

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