ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.25T>G (p.Leu9Val) (rs1060503768)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463673 SCV000554042 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2016-11-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 9 of the SDHB protein (p.Leu9Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on mRNA splicing and protein function. It has been classified as a Variant of Uncertain Significance.

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