ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.210dup (p.Met71fs) (rs794728947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183218 SCV000235638 pathogenic not provided 2014-07-08 criteria provided, single submitter clinical testing The c.210dupC mutation in the SDHB gene causes a frameshift starting with codon Methionine 71, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Met71HisfsX10. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in the SDHB panel(s).
Ambry Genetics RCV000216710 SCV000278107 pathogenic Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing The c.210dupC pathogenic mutation, located in coding exon 3 of the SDHB gene, results from a duplication of C at nucleotide position 210, causing a translational frameshift with a predicted alternate stop codon. This alteration was reported (asc.207_210insC) in 1/55 individuals with head and neck cancers, and segregated with disease in two individuals in that family (BaysalBE et al.J. Med. Genet. 2002 Mar;39(3):178-83). In addition to the information presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV000796858 SCV000936389 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met71Hisfs*10) in the SDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with head and neck paragangliomas (PMID: 11897817). This variant is also known as c.207–210insC (p.M71fsX80) in the literature. ClinVar contains an entry for this variant (Variation ID: 201604). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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