Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413041 | SCV000490807 | likely pathogenic | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In-frame duplication of 2 amino acids in a non-repeat region |
Counsyl | RCV000670826 | SCV000795730 | uncertain significance | Renal carnitine transport defect | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670826 | SCV001537731 | uncertain significance | Renal carnitine transport defect | 2022-06-12 | criteria provided, single submitter | clinical testing | This variant, c.1078_1083dup, results in the insertion of 2 amino acid(s) of the SLC22A5 protein (p.Gly360_Leu361dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 372506). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV000670826 | SCV002055765 | uncertain significance | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing |