ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.944dup (p.Gly316fs)

dbSNP: rs1579402180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019364 SCV001180712 pathogenic Hereditary cancer-predisposing syndrome 2019-11-06 criteria provided, single submitter clinical testing The c.944dupG pathogenic mutation, located in coding exon 8 of the SDHA gene, results from a duplication of G at nucleotide position 944, causing a translational frameshift with a predicted alternate stop codon (p.G316Rfs*5). 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.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001537861 SCV001754797 likely pathogenic Paragangliomas 5 2020-06-11 criteria provided, single submitter clinical testing This particular SDHA variant, c.944dupG (p.Gly316ArgfsTer5), is predicted to cause a frameshift and subsequent premature stop codon leading to a shortened or absent protein. It is not present in population databases (e.g., gnomAD). Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). Therefore, it is considered a likely pathogenic variant.
Myriad Genetics, Inc. RCV001537861 SCV005083659 pathogenic Paragangliomas 5 2024-05-23 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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