ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.24del (p.Gly9fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338210 SCV004047225 likely pathogenic Multiple mitochondrial dysfunctions syndrome 3 criteria provided, single submitter clinical testing The frame shift variant c.24del (p.Gly9AlafsTer63) in IBA57 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has not been reported to the ClinVar database. The p.Gly9AlafsTer63 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Glycine 9, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Gly9AlafsTer63. For these reasons, this variant has been classified as Likely Pathogenic.

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