ClinVar Miner

Submissions for variant NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) (rs140959406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195491 SCV000252024 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing The G62S missense change identified in the OPA3 gene has not been published as a mutation nor has it been reported as a benign polymorphism. According to 1000 Genomes database, G62S was seen at a frequency of 3.5% (6/170 alleles) from individuals from the Mende population in Sierra Leone, while the NHLBI ESP Exome Variant Server reported G62S was observed at a frequency of 0.8% (37/4400 alleles) in an African American population. No homozygotes were reported in either population. The G62S 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.
Invitae RCV000900236 SCV001044540 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Mendelics RCV000990232 SCV001141106 uncertain significance 3-Methylglutaconic aciduria type 3 2019-05-28 criteria provided, single submitter clinical testing

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