ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) (rs940845256)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460623 SCV000553870 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 260 of the SDHA protein (p.Gly260Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with paraganglioma (PMID: 25394176, 28384794). ClinVar contains an entry for this variant (Variation ID: 412357). Experimental studies in a yeast model have shown that this missense change leads to decreased Sdha protein expression and reduced oxidative phosphorylation activity (PMID: 28724664). 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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