ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)

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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 RCV002401394 SCV002712105 pathogenic Hereditary cancer-predisposing syndrome 2020-07-21 criteria provided, single submitter clinical testing The p.Y580* pathogenic mutation (also known as c.1740C>G), located in coding exon 13 of the SDHA gene, results from a C to G substitution at nucleotide position 1740. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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. RCV004061223 SCV004933680 pathogenic Paragangliomas 5 2023-12-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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