ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1176C>T (p.Gly392=)

gnomAD frequency: 0.00005  dbSNP: rs1041950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461984 SCV000553916 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561058 SCV000674926 likely benign Hereditary cancer-predisposing syndrome 2015-05-04 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002475895 SCV002774234 likely benign not provided 2021-08-20 criteria provided, single submitter clinical testing

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