ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1356C>T (p.Leu452=)

gnomAD frequency: 0.00002  dbSNP: rs748496836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420514 SCV000529055 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000464405 SCV000563699 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567112 SCV000674933 likely benign Hereditary cancer-predisposing syndrome 2016-08-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003477925 SCV004220270 benign not provided 2022-11-10 criteria provided, single submitter clinical testing

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