ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.51G>A (p.Ala17=)

gnomAD frequency: 0.00005  dbSNP: rs764698195
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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 RCV001082535 SCV001007029 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023712 SCV001185627 likely benign Hereditary cancer-predisposing syndrome 2018-10-30 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.
Fulgent Genetics, Fulgent Genetics RCV002501254 SCV002794595 likely benign Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy 2021-10-05 criteria provided, single submitter clinical testing

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