ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1649del (p.Asp550fs) (rs1064794125)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484149 SCV000567913 pathogenic not provided 2015-09-16 criteria provided, single submitter clinical testing The c.1649delA deletion in the OPA1 gene was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1649delA variant causes a frameshift starting with codon Aspartic Acid 550, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 59 of the new reading frame, denoted p.Asp550AlafsX59. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.1649delA to be a pathogenic variant.

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