ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.806+3A>G

gnomAD frequency: 0.00028  dbSNP: rs368144874
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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) RCV000730412 SCV000858145 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536445 SCV003444146 uncertain significance Aspartylglucosaminuria 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the AGA gene. It does not directly change the encoded amino acid sequence of the AGA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368144874, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 594991). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987682 SCV004804371 uncertain significance not specified 2024-01-11 criteria provided, single submitter clinical testing

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