ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs)

dbSNP: rs1560033414
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695619 SCV000824130 pathogenic Fanconi-Bickel syndrome 2018-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). This variant has been observed to be de novo in an individual affected with autosomal recessive Fanconi-Bickel syndrome (PMID: 25919556). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr324Leufs*69) in the SLC2A2 gene. It is expected to result in an absent or disrupted protein product.

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