ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1085_1086del (p.Pro362fs)

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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 RCV004723703 SCV005329412 likely pathogenic Combined oxidative phosphorylation deficiency 35 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.1085_1086del(p.Pro362ArgfsTer3) variant in TRIT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant causes a frameshift starting with codon Proline 362, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Pro362ArgfsTer3. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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