ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004442598 SCV004930932 pathogenic Paragangliomas 5 2024-02-21 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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