ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) (rs752360961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227812 SCV000288124 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-04-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 585 of the SDHA protein (p.Arg585Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs752360961, ExAC 0.006%). This variant has been reported in an individual affected with pheochromocytoma and paranganglioma (PMID: 26269449). ClinVar contains an entry for this variant (Variation ID: 239658). 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 disruptive, 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.
Counsyl RCV000410930 SCV000488660 uncertain significance Paragangliomas 5 2016-05-23 criteria provided, single submitter clinical testing

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