ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.597G>A (p.Ser199=)

gnomAD frequency: 0.00003  dbSNP: rs141874250
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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 RCV000469362 SCV000563691 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569336 SCV000674936 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 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 RCV000569336 SCV002527758 benign Hereditary cancer-predisposing syndrome 2021-10-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478053 SCV004220311 likely benign not provided 2023-01-20 criteria provided, single submitter clinical testing

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