ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)

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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 RCV002727281 SCV003002694 pathogenic Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2022-11-28 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 IBA57-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe69Thrfs*7) in the IBA57 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IBA57 are known to be pathogenic (PMID: 23462291, 25971455, 27785568, 28671726).

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