ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.73-9A>G (rs1553178757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218490 SCV001390372 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-05-15 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the SDHB gene. It does not directly change the encoded amino acid sequence of the SDHB protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with paraganglioma (PMID: 16912137). ClinVar contains an entry for this variant (Variation ID: 438411). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505287 SCV000599483 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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