ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.775+1G>A (rs756874949)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000594596 SCV000708938 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001060330 SCV001225010 likely pathogenic Fanconi-Bickel syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the SLC2A2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs756874949, ExAC 0.01%). Disruption of this splice site has been observed in individual(s) with Fanconi-Bickel syndrome (PMID: 11810292). ClinVar contains an entry for this variant (Variation ID: 502268). 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). 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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