ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.319A>G (p.Ile107Val) (rs1060503720)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566699 SCV000674990 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-16 criteria provided, single submitter clinical testing
Invitae RCV000462764 SCV000553896 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 107 of the SDHA protein (p.Ile107Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHA-related disease. 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. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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