ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.26T>A (p.Leu9Ter) (rs786203800)

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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 RCV000167262 SCV000218103 pathogenic Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing The p.L9* pathogenic mutation (also known as c.26T>A), located in coding exon 1 of the SDHB gene, results from a T to A substitution at nucleotide position 26. This changes the amino acid from a leucine to a stop codon within coding exon 1. This mutation has been reported in an individual with metastaticpheochromocytomas and paragangliomas (PPGLs) (Sue et al. Eur. J. Endocrinol.<span style="background-color:rgb(242, 245, 247); color:rgb(54, 43, 54); font-family:arial; font-size:12px">2014 Nov;86(5):482-486).In addition to the clinical data presented in the literature, since premature stop codons 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 RCV001383783 SCV001583050 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu9*) 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 individual(s) with Paraganglioma-pheochromocytoma syndrome (PMID: 28374168). ClinVar contains an entry for this variant (Variation ID: 187527). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505382 SCV000599480 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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