ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)

dbSNP: rs1385076821
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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 RCV001389282 SCV001590587 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala43Glyfs*16) 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004037704 SCV004933754 pathogenic Paragangliomas 5 2024-02-07 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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