ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)

gnomAD frequency: 0.00001  dbSNP: rs139106405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729362 SCV000252002 uncertain significance not provided 2014-04-22 criteria provided, single submitter clinical testing p.Asp351Gly (GAT>GGT): c.1052 A>G in exon 9 of the PDHX gene (NM_003477.2) The D351G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D315G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Eurofins Ntd Llc (ga) RCV000729362 SCV000857017 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729362 SCV002225026 likely benign not provided 2024-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384672 SCV006044694 uncertain significance Inborn genetic diseases 2025-02-07 criteria provided, single submitter clinical testing The c.2564T>G (p.L855R) alteration is located in exon 25 (coding exon 25) of the OPA1 gene. This alteration results from a T to G substitution at nucleotide position 2564, causing the leucine (L) at amino acid position 855 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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