ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.798C>T (p.Cys266=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412399 SCV002675793 likely benign Hereditary cancer-predisposing syndrome 2022-10-29 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.
CeGaT Center for Human Genetics Tuebingen RCV003434479 SCV004151950 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SDHA: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003776466 SCV004605521 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-07-07 criteria provided, single submitter clinical testing

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