ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1064+5G>A

gnomAD frequency: 0.00006  dbSNP: rs200021115
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411854 SCV000488343 uncertain significance Paragangliomas 5 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000466048 SCV000553885 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561515 SCV000674929 likely benign Hereditary cancer-predisposing syndrome 2019-12-06 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.
GeneDx RCV001584106 SCV001819407 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Sema4, Sema4 RCV000561515 SCV002527692 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000411854 SCV004018615 uncertain significance Paragangliomas 5 2023-04-21 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.

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