ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.959_962del (p.Ile320fs)

dbSNP: rs1064794208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486512 SCV000568203 pathogenic not provided 2017-02-22 criteria provided, single submitter clinical testing The c.794_797delTTGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.794_797delTTGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.794_797delTTGA variant causes a frameshift starting with codon Isoleucine 265, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 42 of the new reading frame, denoted p.Ile265ThrfsX42. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000486512 SCV001250175 pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing OPA1: PVS1, PM2
Athena Diagnostics Inc RCV000486512 SCV002771117 pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Invitae RCV000486512 SCV004292245 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile265Thrfs*42) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with optic atrophy (PMID: 11440989). ClinVar contains an entry for this variant (Variation ID: 419963). For these reasons, this variant has been classified as Pathogenic.

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