ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.16C>G (p.Arg6Gly) (rs759056060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236145 SCV000293909 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing The R6G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R6G 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 in mammals; however, Glycine is observed at this position in other species. Additionally, in silico analysis predicts the R6G variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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