Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000153957 | SCV000203576 | pathogenic | not provided | 2013-12-11 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001264451 | SCV001442614 | likely pathogenic | Salla disease | 2020-10-08 | criteria provided, single submitter | clinical testing | Variant summary: SLC17A5 c.43G>T (p.Glu15X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.3e-06 in 231368 control chromosomes. To our knowledge, no occurrence of c.43G>T in individuals affected with Sialic Acid Storage Disorder and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001264451 | SCV001591982 | pathogenic | Salla disease | 2024-02-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu15*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 167694). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV001264451 | SCV002027585 | pathogenic | Salla disease | 2021-09-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001264451 | SCV004201205 | likely pathogenic | Salla disease | 2024-01-28 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005042300 | SCV005672874 | likely pathogenic | Sialic acid storage disease, severe infantile type; Salla disease | 2024-03-26 | criteria provided, single submitter | clinical testing |