Submissions for variant NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)

gnomAD frequency: 0.01583  dbSNP: rs61862390

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039757	SCV000063446	benign	not specified	2011-06-29	criteria provided, single submitter	clinical testing	Pro1787Ser in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because this residue is not highly conserved across species. Of note , rat has a serine at this position. In addition, computational analyses do not suggest a high likelihood of clinical significance and this variant is listed in dbSNP with a heterozygous frequency over 1% (rs61862390).
Eurofins Ntd Llc (ga)	RCV000039757	SCV000114272	benign	not specified	2013-09-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000039757	SCV000170890	benign	not specified	2013-05-20	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.
Counsyl	RCV000169021	SCV000220167	likely benign	Usher syndrome type 1F	2014-03-18	criteria provided, single submitter	literature only
PreventionGenetics, part of Exact Sciences	RCV000039757	SCV000315070	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343313	SCV000363112	likely benign	Usher syndrome type 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc	RCV000992510	SCV001144882	benign	not provided	2019-07-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992510	SCV001474143	benign	not provided	2023-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV000992510	SCV001726746	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000169021	SCV001459204	benign	Usher syndrome type 1F	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039757	SCV001954274	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039757	SCV001971228	benign	not specified		no assertion criteria provided	clinical testing