ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.201-10T>A

dbSNP: rs761461907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822205 SCV000962996 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-01-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 664170). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. This variant is present in population databases (rs761461907, gnomAD 0.002%). This sequence change falls in intron 2 of the SDHB gene. It does not directly change the encoded amino acid sequence of the SDHB protein.

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