ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1075+4G>A

gnomAD frequency: 0.00001  dbSNP: rs754290055
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179260 SCV000231481 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing
Invitae RCV000812980 SCV000953310 uncertain significance Glycogen storage disease, type II 2022-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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. This variant is present in population databases (rs754290055, gnomAD 0.002%). 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: 198047). 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 create or strengthen a 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 RCV000812980 SCV002027252 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488429 SCV004241650 uncertain significance not specified 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000812980 SCV001455602 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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