ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.534C>T (p.Leu178=)

gnomAD frequency: 0.00001  dbSNP: rs749329370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229841 SCV000288142 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347888 SCV002646289 likely benign Hereditary cancer-predisposing syndrome 2020-10-28 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 RCV003477822 SCV004220309 likely benign not provided 2023-09-05 criteria provided, single submitter clinical testing

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