ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.637A>G (p.Met213Val) (rs770622939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470317 SCV000554029 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-02-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 213 of the SDHB protein (p.Met213Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHB-related disease. 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: Possibly Damaging; Align-GVGD: Class C1). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000570702 SCV000675091 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-05 criteria provided, single submitter clinical testing The p.M213V variant (also known as c.637A>G), located in coding exon 6 of the SDHB gene, results from an A to G substitution at nucleotide position 637. The methionine at codon 213 is replaced by valine, 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.

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