ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.896-5T>G

dbSNP: rs2126576742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915553 SCV002168965 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-09-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 7 of the SDHA gene. It does not directly change the encoded amino acid sequence of the SDHA protein.

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