Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000569431 | SCV000664552 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-01-13 | criteria provided, single submitter | clinical testing | The c.111_112dupCC pathogenic mutation, located in coding exon 2 of the SDHB gene, results from a duplication of CC at nucleotide position 111, causing a translational frameshift with a predicted alternate stop codon (p.R38Pfs*40). This alteration has been observed in multiple individuals with a paraganglioma (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV001854410 | SCV002126481 | pathogenic | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2024-01-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg38Profs*40) in the SDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with organ of Zuckerkandl paragangliomas (PMID: 20418362). ClinVar contains an entry for this variant (Variation ID: 94093). For these reasons, this variant has been classified as Pathogenic. |
| Eurofins Ntd Llc |
RCV000080042 | SCV000111936 | pathogenic | not provided | 2013-09-06 | no assertion criteria provided | clinical testing |