ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) (rs1444399160)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525177 SCV000651438 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2017-06-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 137 of the SDHA protein (p.Asp137Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SDHA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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