Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001234201 | SCV001406834 | pathogenic | Salla disease | 2019-07-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant has not been reported in the literature in individuals with SLC17A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln207*) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. |
DASA | RCV002298911 | SCV002588759 | pathogenic | Sialic acid storage disease, severe infantile type | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.619C>T;p.(Gln207*) variant creates a premature translational stop signal in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (ClinVar ID:960642) - PS4_supporting. This variant is not present in population databases (rs1769021763, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |
Baylor Genetics | RCV001234201 | SCV004201216 | likely pathogenic | Salla disease | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004727019 | SCV005336484 | pathogenic | SLC17A5-related disorder | 2024-08-13 | no assertion criteria provided | clinical testing | The SLC17A5 c.619C>T variant is predicted to result in premature protein termination (p.Gln207*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. In ClinVar, this variant has been reported as likely pathogenic /pathogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/960642/). Nonsense variants in SLC17A5 are expected to be pathogenic. This variant is interpreted as pathogenic. |