Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988325 | SCV001137994 | pathogenic | Hypoparathyroidism, deafness, renal disease syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV002508791 | SCV002818231 | pathogenic | not provided | 2022-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002508791 | SCV003441478 | pathogenic | not provided | 2022-01-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802559). This variant is also known as a deletion at codon 236. This premature translational stop signal has been observed in individual(s) with hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (PMID: 17210674, 26282285). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ser237Alafs*29) 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). |