ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.199del (p.Arg67fs)

dbSNP: rs949388785
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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).
GeneDx 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.