Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660263 | SCV000782287 | pathogenic | Paragangliomas 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530564 | SCV003440471 | pathogenic | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 | 2022-07-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SDHD protein in which other variant(s) (p.Leu139Arg) have been determined to be pathogenic (PMID: 11343322, 15032977, 15328326; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 547770). This variant is also known as 13732insT. This premature translational stop signal has been observed in individual(s) with paraganglioma (PMID: 11343322). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp113*) in the SDHD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the SDHD protein. |