Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036494 | SCV001199861 | pathogenic | Hereditary pheochromocytoma-paraganglioma | 2022-09-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 835577). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg67Glufs*31) in the SDHAF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHAF2 are known to be pathogenic (PMID: 22241717, 26096992). |
Gene |
RCV003151828 | SCV003840314 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation and nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003380802 | SCV004088755 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-09 | criteria provided, single submitter | clinical testing | The c.199delA pathogenic mutation, located in coding exon 2 of the SDHAF2 gene, results from a deletion of one nucleotide at nucleotide position 199, causing a translational frameshift with a predicted alternate stop codon (p.R67Efs*31). 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. |