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

gnomAD frequency: 0.00056  dbSNP: rs111033463

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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://exac.broadinstitute.org; 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000039758	SCV000297036	likely benign	not specified	2015-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000896182	SCV000726560	benign	not provided	2020-05-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27984600, 22135276)
Invitae	RCV000896182	SCV001040262	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000896182	SCV001249007	likely benign	not provided	2019-12-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105924	SCV001262939	likely benign	Usher syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics	RCV002477117	SCV002797316	benign	Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F	2022-05-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534845	SCV004753106	likely benign	PCDH15-related disorder	2019-07-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000169085	SCV001454381	benign	Usher syndrome type 1F	2020-04-13	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000896182	SCV001923711	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000896182	SCV001968443	likely benign	not provided		no assertion criteria provided	clinical testing