ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) (rs144513891)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203953 SCV000262238 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 235 of the SDHA protein (p.Ile235Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs144513891, ExAC 0.01%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 221076). 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. 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.
Counsyl RCV000410184 SCV000489501 uncertain significance Paragangliomas 5 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562815 SCV000674949 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000765825 SCV000897220 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing

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