ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003781301 SCV004573331 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-06-24 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SDHB protein function. This missense change has been observed in individual(s) with bladder paraganglioma (PMID: 27819762). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 259 of the SDHB protein (p.Pro259Leu).
All of Us Research Program, National Institutes of Health RCV004005966 SCV004835336 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-11-30 criteria provided, single submitter clinical testing

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