Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000486209 | SCV000567401 | pathogenic | not provided | 2024-09-21 | criteria provided, single submitter | clinical testing | Observed in patient with neurodevelopmental disorder in published literature; however, additional clinical information was not provided (PMID: 35904121); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25139356, 26556299, 35982159, 33057194, 35904121) |
| Labcorp Genetics |
RCV001237885 | SCV001410668 | pathogenic | Tatton-Brown-Rahman overgrowth syndrome | 2023-06-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. This variant is present in population databases (rs779626155, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg771*) in the DNMT3A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNMT3A are known to be pathogenic (PMID: 24614070). ClinVar contains an entry for this variant (Variation ID: 419534). For these reasons, this variant has been classified as Pathogenic. |
| Ce |
RCV000486209 | SCV001746597 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV003338604 | SCV004047018 | pathogenic | Acute myeloid leukemia | criteria provided, single submitter | clinical testing | The stop gain c.2311C>T (p.Arg771Ter) variant has been reported previously as a somatic variant in an individual affected with myelodysplastic syndrome and refractory anemia (Zhao X. et al., 2017). Germline DNMT3A mutation in familial acute myeloid leukemia has been previously reported (DiNardo CD. et al., 2021). This variant is reported with the allele frequency (0.0003%) in the gnomAD and novel in 1000 genome database. It has been submitted to ClinVar as a Pathogenic variant. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic. | |
| Clinical Genetics Laboratory, |
RCV001237885 | SCV004805243 | pathogenic | Tatton-Brown-Rahman overgrowth syndrome | 2024-03-24 | criteria provided, single submitter | clinical testing |