Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548710 | SCV000651354 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001329181 | SCV001520545 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 1 | 2020-07-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Sema4, |
RCV002258966 | SCV002527693 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-06 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002258966 | SCV002639034 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-28 | criteria provided, single submitter | clinical testing | The p.V393L variant (also known as c.1177G>T), located in coding exon 9 of the SDHA gene, results from a G to T substitution at nucleotide position 1177. The valine at codon 393 is replaced by leucine, an amino acid with highly similar properties. In a study of 1012 unrelated patients from India with suspected neurological disorders, this variant was observed in a patient with myopathy, who also was heterozygous for SDHA p.A69T; however, the phase (whether in cis or trans) was not specified and further clinical information was not provided (Ganapathy A et al. J. Neurol. 2019 Aug;266:1919-1926). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003139851 | SCV003819241 | uncertain significance | not provided | 2021-09-03 | criteria provided, single submitter | clinical testing |