Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197685 | SCV000250742 | likely pathogenic | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | The c.1411+2T>A variant in the SLC2A10 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 3, which is predicted to cause abnormal gene splicing. The c.1411+2T>A variant is observed in 10/24,038 (0.04%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). We interpret c.1411+2T>A as a likely pathogenic variant. |
Revvity Omics, |
RCV001781572 | SCV002023548 | likely pathogenic | Arterial tortuosity syndrome | 2020-06-12 | criteria provided, single submitter | clinical testing | |
Ai |
RCV000197685 | SCV002503049 | likely pathogenic | not provided | 2021-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001781572 | SCV002965261 | likely pathogenic | Arterial tortuosity syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 3 of the SLC2A10 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 SLC2A10 are known to be pathogenic (PMID: 17935213, 22488877, 23494979). This variant is present in population databases (rs761721442, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 213751). 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. |