ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003807196 SCV004594551 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 creates a premature translational stop signal (p.Leu349Glyfs*11) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757).
Myriad Genetics, Inc. RCV004366656 SCV004933584 pathogenic Paragangliomas 5 2024-01-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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