ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.342C>T (p.His114=)

gnomAD frequency: 0.00019  dbSNP: rs143730978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079355 SCV000557761 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573820 SCV000675100 likely benign Hereditary cancer-predisposing syndrome 2017-06-23 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.
GeneDx RCV000759343 SCV000715897 likely benign not provided 2021-09-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506595 SCV000888619 benign not specified 2018-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915293 SCV004735281 likely benign SDHC-related condition 2023-05-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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