Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003580071 | SCV004354552 | pathogenic | not provided | 2024-02-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp150Glufs*4) in the SLC12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A1 are known to be pathogenic (PMID: 8640224, 9585600, 19096086). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Bartter syndrome (PMID: 29942493). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV005003664 | SCV005630852 | likely pathogenic | Bartter disease type 1 | 2024-03-12 | criteria provided, single submitter | clinical testing |