Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000367514 | SCV000329937 | pathogenic | not provided | 2024-04-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26975589, 23469184, 27621386, 27290639, 27896110, 31589614, 31216405, 34631424, 20065143, 24957181, 34789446, 37628588) |
Baylor Genetics | RCV000170443 | SCV000992833 | pathogenic | Biotin-responsive basal ganglia disease | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000170443 | SCV001590149 | pathogenic | Biotin-responsive basal ganglia disease | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser26Leufs*19) in the SLC19A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC19A3 are known to be pathogenic (PMID: 23423671, 23482991). This variant is present in population databases (rs786205213, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with autosomal recessive biotin-responsive basal ganglia disease (PMID: 20065143, 27896110). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 190224). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000170443 | SCV005656184 | pathogenic | Biotin-responsive basal ganglia disease | 2024-02-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000170443 | SCV000025005 | pathogenic | Biotin-responsive basal ganglia disease | 2010-01-01 | no assertion criteria provided | literature only | |
Mendelics | RCV000170443 | SCV000222881 | pathogenic | Biotin-responsive basal ganglia disease | 2014-12-23 | no assertion criteria provided | clinical testing |