ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) (rs181238392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569746 SCV000674999 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Counsyl RCV000662939 SCV000785896 uncertain significance Paragangliomas 5 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000458208 SCV000553921 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 551 of the SDHA protein (p.Thr551Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs181238392, ExAC 0.02%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 412397). 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 C15"). 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.

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