ClinVar Miner

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

gnomAD frequency: 0.00010  dbSNP: rs143058777
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 2023-08-15 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

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