ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.513T>C (p.Arg171=)

gnomAD frequency: 0.00004  dbSNP: rs765157205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226781 SCV000288141 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000412315 SCV000489451 likely benign Paragangliomas 5 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000441092 SCV000534430 likely benign not specified 2016-12-08 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 RCV001023603 SCV001185505 likely benign Hereditary cancer-predisposing syndrome 2017-08-29 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.
Myriad Genetics, Inc. RCV000412315 SCV004018611 benign Paragangliomas 5 2023-04-21 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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