Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409832 | SCV000485932 | likely pathogenic | Salla disease | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000409832 | SCV004307282 | pathogenic | Salla disease | 2023-07-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370579). This premature translational stop signal has been observed in individual(s) with lysosomal storage disease (PMID: 29654786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp303*) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). |