ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.313-5T>G (rs1060503705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459906 SCV000553847 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2016-07-09 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the SDHA mRNA. It does not directly change the encoded amino acid sequence of the SDHA protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an SDHA-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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