Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001379640 | SCV001577476 | likely pathogenic | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2016-01-30 | criteria provided, single submitter | clinical testing | This sequence change is a gross duplication of the genomic region encompassing a portion of exon 2 to exon 7 of the SDHB gene. The 5' breakpoint of this duplication is within exon 2 at c.127; the 3' boundary is likely confined to the intronic region between exons 7 and 8. The duplicated copy of this region is in tandem and may result in an absent or disrupted protein product. While this duplication has not been reported in the literature, other gross duplications in SDHB are known to be pathogenic (PMID: 19351833). Although this tandem duplication is expected to disrupt the protein, it has not been confirmed by published functional studies.  For these reasons, this variant has been classified as Likely Pathogenic. |