Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003555936 | SCV004293791 | pathogenic | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg162*) in the SLC19A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC19A2 are known to be pathogenic (PMID: 10391221, 10391223, 10874303). This variant is present in population databases (rs74315373, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with thiamine-responsive megaloblastic anemia syndrome (PMID: 10391221). ClinVar contains an entry for this variant (Variation ID: 5955). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006319 | SCV000026501 | pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1999-07-01 | no assertion criteria provided | literature only |