Submissions for variant NM_003000.3(SDHB):c.113G>A (p.Arg38His)

gnomAD frequency: 0.00010  dbSNP: rs143058777

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230624	SCV000287756	likely benign	Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353258	SCV000351431	likely benign	Hereditary pheochromocytoma-paraganglioma	2017-04-27	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.
Illumina Laboratory Services, Illumina	RCV000260688	SCV000351432	likely benign	Carney-Stratakis syndrome	2017-04-27	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	RCV001697230	SCV000531233	likely benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24813157, 27425854)
Ambry Genetics	RCV000575516	SCV000675063	likely benign	Hereditary cancer-predisposing syndrome	2018-07-13	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.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV002223144	SCV002500962	uncertain significance	Mitochondrial complex 2 deficiency, nuclear type 4		criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465588	SCV002760667	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316258	SCV004015420	likely benign	Paragangliomas 4	2023-07-07	criteria provided, single submitter	clinical testing