Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475275 | SCV000553915 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022664 | SCV001184424 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
St. |
RCV003230266 | SCV003928125 | uncertain significance | Paragangliomas 5 | 2023-04-20 | criteria provided, single submitter | clinical testing | The SDHA c.453C>A (p.Val151=) synonymous change has a maximum subpopulation frequency of 0.005% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Algorithms that predict the impact of sequence changes on splicing indicate that this change may create or activate a cryptic donor splice site, but RNA studies indicate no splicing effect (internal data). To our knowledge, this variant has not been reported in individuals with SDHA-associated tumors. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |