ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.607G>A (p.Gly203Arg) (rs201517260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234672 SCV000287780 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 203 of the SDHB protein (p.Gly203Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201517260, ExAC 0.01%). This variant has been reported in an individual with pheochromocytoma (PMID: 19825962). ClinVar contains an entry for this variant (Variation ID: 239435). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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 RCV001024870 SCV001186957 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter clinical testing The p.G203R variant (also known as c.607G>A), located in coding exon 6 of the SDHB gene, results from a G to A substitution at nucleotide position 607. The glycine at codon 203 is replaced by arginine, an amino acid with dissimilar properties. This variant has been detected in a patient diagnosed with a pheochromocytoma at the age of 60 (Erlic Z et al. Clin Cancer Res. 2009 Oct 15;15(20):6378-85). This amino acid position is well 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.

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