ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1737C>T (p.Ile579=)

gnomAD frequency: 0.00002  dbSNP: rs201454617
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082233 SCV000563689 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000475760 SCV000724500 likely benign not provided 2019-04-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000475760 SCV001154361 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing SDHA: BP4, BP7
Ambry Genetics RCV001012952 SCV001173476 likely benign Hereditary cancer-predisposing syndrome 2015-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV001012952 SCV002527729 likely benign Hereditary cancer-predisposing syndrome 2021-10-08 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316633 SCV004015404 likely benign Paragangliomas 5 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000475760 SCV005256861 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541512 SCV004772552 likely benign SDHA-related disorder 2019-11-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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