ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.9_10dup (p.Val4fs)

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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. RCV004589362 SCV005083695 pathogenic Paragangliomas 5 2024-06-19 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 RCV004661839 SCV005163885 pathogenic Hereditary cancer-predisposing syndrome 2024-06-19 criteria provided, single submitter clinical testing The c.9_10dupGG pathogenic mutation, located in coding exon 1 of the SDHA gene, results from a duplication of GG at nucleotide position 9, causing a translational frameshift with a predicted alternate stop codon (p.V4Gfs*9). 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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