ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.643-10G>A (rs1553177293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520490 SCV000619059 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing The c.643-10G>A variant in the SDHB gene has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Multiple in silico models predict this variant to destroy the nearby natural acceptor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. The guanine (G) nucleotide that is altered is not conserved. Based on currently available information, we consider c.643-10G>A to be a variant of uncertain significance.
Invitae RCV001042634 SCV001206330 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-06-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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 not been reported in the literature in individuals with SDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 450469). 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.

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