ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.446C>T (p.Ala149Val)

dbSNP: rs1060503709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473445 SCV000553866 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2016-04-01 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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 C0"). 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. This sequence change replaces alanine with valine at codon 149 of the SDHA protein (p.Ala149Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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