ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.73-6T>A

gnomAD frequency: 0.00001  dbSNP: rs1252798981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803242 SCV000943104 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-10-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472372 SCV004203017 uncertain significance Gastrointestinal stromal tumor 2023-05-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001659 SCV004824564 likely benign Hereditary pheochromocytoma-paraganglioma 2024-02-05 criteria provided, single submitter clinical testing This variant causes a T to A nucleotide substitution at the -6 position of intron 1 of the SDHB gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary paranganglioma-pheochromocytoma syndrome in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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