ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup)

dbSNP: rs1555985576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479505 SCV000573313 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PCDH19 gene. The c.570_572dupCGT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.570_572dupCGT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.570_572dupCGT variant results in an in-frame duplication of a single Valine residue, denoted p.V192dup. This duplication occurs at a position that is conserved across species. 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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