ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.739A>G (p.Met247Val) (rs200896502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543096 SCV000630729 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 247 of the SDHB protein (p.Met247Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs200896502, ExAC 0.003%). This variant 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 C15"). In summary, this variant has uncertain impact on SDHB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000575911 SCV000675066 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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