Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000696327 | SCV001712017 | likely benign | Pitt-Hopkins syndrome | 2021-03-26 | reviewed by expert panel | curation | The p.Gly428Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Gly428Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly428Val variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4). |
Labcorp Genetics |
RCV000696327 | SCV000824883 | likely benign | Pitt-Hopkins syndrome | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315997 | SCV000848004 | likely benign | Inborn genetic diseases | 2021-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV001255114 | SCV001813103 | likely benign | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously reported as pathogenic or benign in association with a TCF4-related disorder. The variant has been observed in a patient with schizophrenia and was not identified in 305 control individuals; however, no additional information was provided (Hu et al., 2014).; This variant is associated with the following publications: (PMID: 24126932) |
New York Genome Center | RCV001255114 | SCV001431207 | uncertain significance | not provided | 2019-11-14 | no assertion criteria provided | clinical testing |