ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)

gnomAD frequency: 0.00261  dbSNP: rs80207011
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130407 SCV000185269 benign Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000228248 SCV000288113 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000410621 SCV000487821 likely benign Paragangliomas 5 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001704054 SCV000730679 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818312 SCV002069741 benign not specified 2021-04-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000130407 SCV002527717 benign Hereditary cancer-predisposing syndrome 2020-02-26 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001818312 SCV002773965 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410621 SCV004045355 uncertain significance Paragangliomas 5 2023-04-24 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
PreventionGenetics, part of Exact Sciences RCV003925278 SCV004740150 benign SDHA-related condition 2019-09-09 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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