Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228216 | SCV000287818 | pathogenic | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1 | 2016-03-17 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 3 of the SDHD mRNA (c.242delC), causing a frameshift at codon 81. This creates a premature translational stop signal (p.Pro81Argfs*5) and is expected to result in an absent or disrupted protein product. Truncating variants in SDHD are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with paraganglioma (PMID: 19454582). This variant is also referred to as c.242del* in the literature. For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV002229347 | SCV001582234 | pathogenic | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 | 2016-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in SDHD are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with paraganglioma (PMID: 19454582). This variant is also referred to as c.242del* in the literature. This sequence change deletes 1 nucleotide from exon 3 of the SDHD mRNA (c.242delC), causing a frameshift at codon 81. This creates a premature translational stop signal (p.Pro81Argfs*5) and is expected to result in an absent or disrupted protein product. |
Sema4, |
RCV002258843 | SCV002527122 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-09 | criteria provided, single submitter | curation |