Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000239361 | SCV000297689 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574591 | SCV000664530 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-20 | criteria provided, single submitter | clinical testing | The p.E640G variant (also known as c.1919A>G), located in coding exon 15 of the SDHA gene, results from an A to G substitution at nucleotide position 1919. The glutamic acid at codon 640 is replaced by glycine, an amino acid with similar properties. This alteration was detected in a large Brazilian family with multiple cases of papillary thyroid cancer, but it did not segregate with disease (Accordi ED et al. Eur Thyroid J. 2016 Jul;5:94-9). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Counsyl | RCV000663177 | SCV000786344 | uncertain significance | Paragangliomas 5 | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765835 | SCV000897230 | uncertain significance | Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000836807 | SCV000978653 | likely benign | not provided | 2019-12-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17376234, 27493882, 31376648) |
Sema4, |
RCV000574591 | SCV002527736 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-25 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000663177 | SCV004018601 | uncertain significance | Paragangliomas 5 | 2023-04-21 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |