ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.804_805del (p.Lys269fs)

dbSNP: rs863224142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196603 SCV000252010 pathogenic not provided 2014-05-12 criteria provided, single submitter clinical testing c.639_640delGA: p.Lys214AsnfsX2 (K214NfsX2) in exon 6 of the OPA1 gene (NM_015560.2). The normal sequence with the bases that are deleted in braces is: AAGA{GA}AAAT. The c.639_640delGA mutation in the OPA1 gene has been reported previously in association with autosomal dominant optic atrophy (ADOA) (Yu-Wai-Man et al., 2011). The deletion causes a frameshift starting with codon Lysine 214, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Lys214AsnfsX2. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in OAPEO-MITOP panel(s).
Eurofins Ntd Llc (ga) RCV000196603 SCV000861611 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000196603 SCV001144794 pathogenic not provided 2019-07-16 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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