ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253160 SCV001428735 likely pathogenic Renal neoplasm 2020-02-19 criteria provided, single submitter clinical testing
Invitae RCV001387122 SCV001587662 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-10-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 191 of the SDHB protein (p.Cys191Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with paraganglioma and pheochromocytoma (PMID: 19261679, 25720320, 22241717, 30050099). ClinVar contains an entry for this variant (Variation ID: 976001). 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 variant has been reported to affect SDHB protein function (PMID: 19261679). For these reasons, this variant has been classified as Pathogenic.

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