ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472623 SCV004200660 likely pathogenic Dilated cardiomyopathy 1GG 2023-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779109 SCV004573366 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln367*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with medulloblastoma (PMID: 29489754). For these reasons, this variant has been classified as Pathogenic.

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