ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1192del (p.Glu398fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004589347 SCV005083656 pathogenic Paragangliomas 5 2024-05-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004950821 SCV005496559 pathogenic Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The c.1192delG pathogenic mutation, located in coding exon 9 of the SDHA gene, results from a deletion of one nucleotide at nucleotide position 1192, causing a translational frameshift with a predicted alternate stop codon (p.E398Sfs*25). This variant has been observed in at least one individual with a personal and/or family history that is consistent with SDHA-related paraganglioma-pheochromocytoma syndrome (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.

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