Total submissions: 4
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 | 2023-05-23 | criteria provided, single submitter | clinical testing | 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 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. ClinVar contains an entry for this variant (Variation ID: 502268). Disruption of this splice site has been observed in individual(s) with Fanconi-Bickel syndrome (PMID: 11810292). This variant is present in population databases (rs756874949, gnomAD 0.004%). This sequence change affects a donor splice site in intron 6 of the SLC2A2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). |
Fulgent Genetics, |
RCV002483654 | SCV002777878 | pathogenic | Type 2 diabetes mellitus; Fanconi-Bickel syndrome | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV001060330 | SCV003915824 | pathogenic | Fanconi-Bickel syndrome | 2023-04-14 | criteria provided, single submitter | clinical testing | A homozygous 5’ splice site variant in intron 6 of the SLC2A2 gene that affects the invariant GT donor splice site downstream of exon 6 (c.775+1G>A) was detected. The observed variant has been previously reported in the patients affected with Fanconi-Bickel syndrome [PMID: 31589614]. The variant has not been reported in the 1000 genomes databases and has a minor allele frequency of 0.001%, 0.0008% and 0.0004% n the gnomAD (v3.1), gnomdAD (v2.1) and topmed databases respectively. The in-silico predictions of the variant is damaging by MutationTaster2. The reference base is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. |