ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.607_616del (p.Gly203fs) (rs587782617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131995 SCV000187054 pathogenic Hereditary cancer-predisposing syndrome 2014-03-03 criteria provided, single submitter clinical testing ​The c.607_616del10 pathogenic mutation, located in coding exon 6 of the SDHB gene, results from a deletion of 10 nucleotides between positions 607 and 616, causing a translational frameshift with a predicted alternate stop codon. 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 RCV000633970 SCV000755243 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2017-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly203Ilefs*14) 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 not been reported in the literature in individuals with SDHB-related disease. ClinVar contains an entry for this variant (Variation ID: 142653). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657287 SCV000779018 pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing This deletion of 10 nucleotides in SDHB is denoted c.607_616del10 at the cDNA level and p.Gly203IlefsX14 (G203IfsX14) at the protein level. The surrounding sequence is GAAC[del10]ATCT. The deletion causes a frameshift which changes a Glycine to an Isoleucine at codon 203, and creates a premature stop codon at position 14 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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