Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000459010 | SCV000554434 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV001821308 | SCV002066542 | uncertain significance | not specified | 2021-01-25 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the GATA2 gene demonstrated a sequence change in intron 2, c.230-12_230-9del. This change does not appear to have been previously described in patients with GATA2-related disorders and has been described in the gnomAD database with a low population frequency of 0.02% (dbSNP rs780435066). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the GATA2 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined. |
| Sema4, |
RCV002256275 | SCV002529427 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-03 | criteria provided, single submitter | curation | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001821308 | SCV005394629 | likely benign | not specified | 2024-09-25 | criteria provided, single submitter | clinical testing | Variant summary: GATA2 c.230-12_230-9delCTTT alters nucleotides located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00022 in 217586 control chromosomes, predominantly at a frequency of 0.00045 within the Non-Finnish European subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in GATA2 causing GATA2-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.230-12_230-9delCTTT in individuals affected with GATA2-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 412753). Based on the evidence outlined above, the variant was classified as likely benign. |