ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.858+4C>G

dbSNP: rs886042706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264924 SCV000336074 uncertain significance not provided 2015-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211480 SCV001383021 uncertain significance Glycogen storage disease, type II 2021-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA 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 affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 283766). 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.
Genome-Nilou Lab RCV001211480 SCV002027242 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing

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