Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV005044611 | SCV005672816 | likely pathogenic | Sialic acid storage disease, severe infantile type; Salla disease | 2024-03-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000409422 | SCV004201210 | likely pathogenic | Salla disease | 2023-10-18 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000409422 | SCV003012923 | pathogenic | Salla disease | 2022-12-10 | 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: 370901). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. This variant is present in population databases (rs771156053, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Asn302Thrfs*8) 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). |
| Counsyl | RCV000409422 | SCV000486330 | likely pathogenic | Salla disease | 2016-05-09 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |