Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726145 | SCV000223503 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726145 | SCV000342387 | uncertain significance | not provided | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000989357 | SCV000541557 | likely benign | Brugada syndrome 8 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989357 | SCV001139652 | uncertain significance | Brugada syndrome 8 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433736 | SCV002747440 | likely benign | Cardiovascular phenotype | 2022-01-20 | 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. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000223698 | SCV000280106 | uncertain significance | not specified | 2014-07-30 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. HCN4 p.Ser935Phe Given that the variant is novel, there is a lack of population frequency data, and the gene-phenotype association is unclear, we consider this variant a variant of uncertain significance. To the best of our knowledge the variant is novel. In silico analysis with PolyPhen-2 predicts the variant to be benign. The serine at codon 935 is not completely conserved across species. In total the variant has not been seen in ~6500 individuals from publicly available population datasets. There is no variation at codon 935 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of July 29th, 2014). There is also no variation at this codon listed in dbSNP (as of July 29th, 2014). |