ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)

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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 RCV002909370 SCV003256799 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-10-13 criteria provided, single submitter clinical testing 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is present in population databases (rs773634017, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 146 of the SDHA protein (p.Ala146Thr).

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