ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.444_445delinsTCTATGG (p.Gln149fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004663472 SCV005161216 pathogenic Hereditary cancer-predisposing syndrome 2024-05-13 criteria provided, single submitter clinical testing The c.444_445delACinsTCTATGG pathogenic mutation, located in coding exon 5 of the SDHB gene, results from the deletion of two nucleotides and insertion of 7 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.Q149Lfs*11). 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.
Myriad Genetics, Inc. RCV005249712 SCV005895918 pathogenic Paragangliomas 4 2024-10-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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