ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1913del (p.Thr638fs) (rs1554002857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649411 SCV000771239 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2017-12-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHA gene (p.Thr638Ilefs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acids of the SDHA protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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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