ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2116_*2130del (rs759376968)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522340 SCV000618127 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRX gene. The c.1911_1925del15 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1911_1925del15 variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1911_1925del15 variant results in an in-frame deletion of 5 amino acids, denoted p.Glu638_Pro642del. In-frame deletions of the PRX gene have not been previously reported in association with neuropathy to our knowledge (Stenson et al., 2014). 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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