ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.526C>T (p.Gln176Ter)

dbSNP: rs2126549741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
“Giorgio Prodi” Cancer Research Center, University of Bologna RCV001799813 SCV002026130 pathogenic Gastrointestinal stromal tumor 2021-10-01 criteria provided, single submitter research
Ambry Genetics RCV002343850 SCV002646496 pathogenic Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter clinical testing The p.Q176* pathogenic mutation (also known as c.526C>T), located in coding exon 5 of the SDHA gene, results from a C to T substitution at nucleotide position 526. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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.

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