ClinVar Miner

Submissions for variant NM_004168.4:c.(1260_1261)_(1432_1433)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003323316 SCV004028472 likely pathogenic Paragangliomas 5 2023-08-22 criteria provided, single submitter clinical testing In control collectives (gnomAD), the variant is not listed so far (as of 22/08/2023). Deletions within SDHA have already been described in the literature as disease-causing (Dubard Gault et al. 2018). The deletion of exon 10 is an out-of-frame deletion, so it is highly likely that the resulting protein will be functionally impaired. The variant is considered a "likely pathogenic variant" at this time (ACMG criteria).

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