ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)

gnomAD frequency: 0.00103  dbSNP: rs145565705
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594159 SCV000700463 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594159 SCV001057544 likely benign not provided 2024-12-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335766 SCV001528998 uncertain significance Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 2018-02-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000594159 SCV001802360 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662637 SCV001880553 benign not specified 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530950 SCV003634980 likely benign Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004737850 SCV005349789 likely benign OPA1-related disorder 2024-03-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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