Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000576361 | SCV000677850 | likely pathogenic | Paragangliomas 5 | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001381444 | SCV001579827 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2022-12-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 487408). This premature translational stop signal has been observed in individual(s) with pituitary adenoma (PMID: 32621582). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val253Cysfs*67) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). |