ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.1651G>A (p.Val551Met) (rs61733448)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235950 SCV000292807 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRX gene. The V551M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V551M variant is observed in 29/16510 (0.2%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V551M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. 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 variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000545891 SCV000413233 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545891 SCV000657997 likely benign Charcot-Marie-Tooth disease type 4 2017-11-28 criteria provided, single submitter clinical testing

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