Submissions for variant NM_003001.5(SDHC):c.490A>T (p.Met164Leu)

gnomAD frequency: 0.00004  dbSNP: rs200375156

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163312	SCV000213840	likely benign	Hereditary cancer-predisposing syndrome	2018-06-05	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.
Invitae	RCV001083551	SCV000287806	likely benign	Gastrointestinal stromal tumor; Paragangliomas 3	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454468	SCV000540305	uncertain significance	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Found 2 papers, not enough evidence for path
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000454468	SCV000602181	uncertain significance	not specified	2016-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000226413	SCV001147499	uncertain significance	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095934	SCV001252114	likely benign	Hereditary pheochromocytoma-paraganglioma	2018-10-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000226413	SCV001823462	likely benign	not provided	2021-04-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30122538, 30256826, 24466223, 27153395, 23175444)
Genetic Services Laboratory, University of Chicago	RCV000454468	SCV002068102	benign	not specified	2021-04-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163312	SCV002527116	benign	Hereditary cancer-predisposing syndrome	2021-08-18	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000454468	SCV002552110	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153438	SCV003843837	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
Center of Medical Genetics and Primary Health Care	RCV001269363	SCV001448710	likely benign	Malignant tumor of breast		no assertion criteria provided	clinical testing