ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.128-2A>G

dbSNP: rs2111022003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383515 SCV001582666 pathogenic Aspartylglucosaminuria 2020-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). 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. This variant has been reported to affect AGA protein function (PMID: 29247835). This variant has been observed in individual(s) with clinical features of aspartylglucosaminuria (PMID: 29247835). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 1 of the AGA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV001383515 SCV004217549 pathogenic Aspartylglucosaminuria 2023-12-30 criteria provided, single submitter clinical testing

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