ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)

dbSNP: rs1553177676
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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 RCV001207898 SCV001379266 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 169 of the SDHB protein (p.Gln169Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 938636). 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 not expected to disrupt SDHB protein function. 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.
Ambry Genetics RCV002339532 SCV002644052 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-09 criteria provided, single submitter clinical testing The p.Q169E variant (also known as c.505C>G), located in coding exon 5 of the SDHB gene, results from a C to G substitution at nucleotide position 505. The glutamine at codon 169 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004010664 SCV004821060 uncertain significance Hereditary pheochromocytoma-paraganglioma 2023-03-28 criteria provided, single submitter clinical testing

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