ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) (rs765611464)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765827 SCV000897222 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000463083 SCV000553853 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2016-10-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 271 of the SDHA protein (p.Thr271Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs765611464, ExAC <0.01%) but has not been reported in the literature in individuals with an 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: "Benign"; Align-GVGD: "Class C55"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function and mRNA splicing. It has been classified as a Variant of Uncertain Significance.

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