ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.57C>G (p.Ala19=)

gnomAD frequency: 0.00001  dbSNP: rs749948037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084132 SCV000297680 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000842001 SCV000983993 likely benign not provided 2018-04-10 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.
Ambry Genetics RCV001024546 SCV001186578 likely benign Hereditary cancer-predisposing syndrome 2014-10-30 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.

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