ClinVar Miner

Submissions for variant NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) (rs200911550)

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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 RCV000568645 SCV000675039 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034763 SCV000043482 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Invitae RCV000687293 SCV000814852 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 18 of the SDHAF2 protein (p.Arg18Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs200911550, ExAC 0.009%). This variant has not been reported in the literature in individuals with SDHAF2-related disease. ClinVar contains an entry for this variant (Variation ID: 41836). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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