Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556041 | SCV004295635 | pathogenic | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg277*) in the GATA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA3 are known to be pathogenic (PMID: 14985365, 21242646). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypoparathyroidism, sensorineural deafness, renal anomaly syndrome (PMID: 10935639). ClinVar contains an entry for this variant (Variation ID: 16623). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018102 | SCV000038381 | pathogenic | Hypoparathyroidism, deafness, renal disease syndrome | 2000-07-27 | no assertion criteria provided | literature only |