ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.344G>A (p.Arg115Gln) (rs200973284)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574274 SCV000675069 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000766362 SCV000279895 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is denoted SDHB c.344G>A at the cDNA level, p.Arg115Gln (R115Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. SDHB Arg115Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Arginine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. SDHB Arg115Gln is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether SDHB Arg115Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
ITMI RCV000122001 SCV000086212 not provided not specified 2013-09-19 no assertion provided reference population

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