Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000248625 | SCV000318873 | pathogenic | Cardiovascular phenotype | 2013-06-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000202510 | SCV000549138 | pathogenic | Arterial tortuosity syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg229*) in the SLC2A10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC2A10 are known to be pathogenic (PMID: 17935213, 22488877, 23494979). This variant is present in population databases (rs756457861, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with arterial tortuosity syndrome (PMID: 17935213, 19622975, 19781076). ClinVar contains an entry for this variant (Variation ID: 161096). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000202510 | SCV000195648 | not provided | Arterial tortuosity syndrome | no assertion provided | literature only |