ClinVar Miner

Submissions for variant NM_198076.6(COX20):c.92G>A (p.Arg31Gln)

gnomAD frequency: 0.00007  dbSNP: rs764620077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429031 SCV000510888 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000429031 SCV000577842 likely pathogenic not provided 2015-04-09 criteria provided, single submitter clinical testing The R31Q variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R31Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV000429031 SCV001073136 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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