ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) (rs111033463)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039758 SCV000063447 benign not specified 2015-06-03 criteria provided, single submitter clinical testing Val1800Ile in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (94/13018) of South Asian chr omosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, htt p://; dbSNP rs111033463). In addition, the valine (Val) residue at position 1800 is not conserved in several species, with chimpanzee an d macaque having an isoleucine (Ile) at this position.
Counsyl RCV000169085 SCV000220261 likely benign Usher syndrome, type 1F 2014-04-21 criteria provided, single submitter literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000039758 SCV000297036 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000039758 SCV000726560 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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