ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1233C>T (p.Gly411=)

gnomAD frequency: 0.00003  dbSNP: rs376530094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468789 SCV000563711 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569519 SCV000674962 likely benign Hereditary cancer-predisposing syndrome 2023-07-26 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.
Genetic Services Laboratory, University of Chicago RCV001821384 SCV002066324 likely benign not specified 2021-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597809 SCV005093534 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SDHA: BP4, BP7

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