ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.769C>G (p.Leu257Val)

gnomAD frequency: 0.00001  dbSNP: rs761350633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708779 SCV000837727 uncertain significance Cowden syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000819850 SCV000960532 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-02-14 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of mitochondrial complex II deficiency (PMID: 27604842, 34490615). 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. ClinVar contains an entry for this variant (Variation ID: 584582). This variant is present in population databases (rs761350633, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 257 of the SDHB protein (p.Leu257Val).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268269 SCV002552218 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
OMIM RCV001310279 SCV001500012 pathogenic Mitochondrial complex 2 deficiency, nuclear type 4 2021-03-08 no assertion criteria provided literature only

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