Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232971 | SCV000287811 | pathogenic | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 1 of the SDHD mRNA (c.10dupC), causing a frameshift at codon 4. This creates a premature translational stop signal (p.Leu4Profs*65) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in SDHD are known to be pathogenic (PMID: 19802898, 19454582). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV002229658 | SCV001590781 | pathogenic | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 | 2016-01-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SDHD are known to be pathogenic (PMID: 19802898, 19454582). This sequence change inserts 1 nucleotide in exon 1 of the SDHD mRNA (c.10dupC), causing a frameshift at codon 4. This creates a premature translational stop signal (p.Leu4Profs*65) and is expected to result in an absent or disrupted protein product. |