ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.698+1G>A

dbSNP: rs1057517175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794202 SCV000933596 likely pathogenic Aspartylglucosaminuria 2018-12-14 criteria provided, single submitter clinical testing 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 not been reported in the literature in individuals with AGA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the AGA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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