Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001042704 | SCV001206404 | pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 2023-08-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with short stature (PMID: 34006472). ClinVar contains an entry for this variant (Variation ID: 840661). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln368Argfs*2) in the STAT5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT5B are known to be pathogenic (PMID: 15827093). |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV001042704 | SCV001482398 | likely pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 2019-05-31 | no assertion criteria provided | research |