ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)

gnomAD frequency: 0.00001  dbSNP: rs746579947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036530 SCV002309302 likely benign not provided 2024-08-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235664 SCV003933939 uncertain significance not specified 2023-05-31 criteria provided, single submitter clinical testing Variant summary: OPA1 c.2063C>T (p.Pro688Leu) results in a non-conservative amino acid change located in the Dynamin-like GTPase OPA1, C-terminal domain (IPR045817) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251160 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2063C>T in individuals affected with OPA1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV002036530 SCV005437837 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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