ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.286+1G>A (rs786201063)

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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 RCV000162475 SCV000212847 likely pathogenic Hereditary cancer-predisposing syndrome 2014-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000633969 SCV000755242 pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-04-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the SDHB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with paraganglioma (PMID: 27539324, 16912137) and pheochromocytoma (PMID: 17308434). This variant is also known as IVS3+1 G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 183757). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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 RCV000505373 SCV000599491 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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