Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230315 | SCV000543518 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000486155 | SCV000572399 | likely benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001810946 | SCV002048263 | uncertain significance | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | The CBS c.667-10_667-7delTTCT variant (rs1060500684), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 405377). This variant is found in the African population with an overall allele frequency of 0.20% (50/24926 alleles) in the Genome Aggregation Database. This is an intronic variant that deletes four weakly-to-moderately conserved nucleotides, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, RNA studies would be required to confirm an effect on splicing. Given the lack of clinical and functional data, the significance of the c.667-10_667-7delTTCT variant is uncertain at this time. |
Centre de Biologie Pathologie Génétique, |
RCV001252180 | SCV001427930 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000473352 | SCV001455977 | likely benign | Classic homocystinuria | 2020-04-29 | no assertion criteria provided | clinical testing |