ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687867 SCV000815458 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 210 of the SDHA protein (p.Arg210Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs762108779, ExAC 0.009%). This variant has been observed in individuals affected with pheochromocytoma and paraganglioma (PMID: 24694336, 28384794). 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. 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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