ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.151-15A>G

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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 RCV003074284 SCV003454350 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2145890). 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 create or strengthen a 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 (gnomAD no frequency). This sequence change falls in intron 2 of the SDHA gene. It does not directly change the encoded amino acid sequence of the SDHA protein.

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