ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)

dbSNP: rs1553999505
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556000 SCV000651360 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2019-09-05 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a SDHA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 410 of the SDHA protein (p.Met410Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.

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