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 2024-10-29 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 2145890). Studies have shown that this variant is associated with inconclusive levels of altered splicing (internal data). 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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