ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.964C>T (p.Gln322Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004699176 SCV005201098 likely pathogenic Paragangliomas 5 2024-08-22 criteria provided, single submitter clinical testing Null variant (nonsense) in gene SDHA, predicted to cause NMD. Loss-of-function is a known mechanism of disease (PVS1). Variant not found in gnomAD genomes, Variant not found in gnomAD exomes (PM2).We observed this variant in a 29-year-old woman with malignant breast cancer.

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