ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2487_*2489del (rs1131691425)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494346 SCV000582101 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRX gene. The c.2282_2284delCGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2282_2284delCGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2282_2284delCGA variant results in an in-frame deletion of a Proline and Lysine residue and the insertion of Glutamine residue, denoted p.Pro761_Lys762delinsGln. However, this variant occurs in a region that is not conserved. Therefore, 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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