Submissions for variant NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)

gnomAD frequency: 0.00631  dbSNP: rs111033362

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039743	SCV000063432	benign	not specified	2011-09-02	criteria provided, single submitter	clinical testing	Asn1617Ser in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.7%(32/4548)of control chromosome s. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not sugge st a high likelihood of impact to the protein primarily based upon a lack of con servation across species including mammals. Of note, mouse, rat, chick, platypus and lizard has a serine at this position.
Eurofins Ntd Llc (ga)	RCV000039743	SCV000114270	benign	not specified	2013-10-21	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000039743	SCV000297035	likely benign	not specified	2015-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039743	SCV000315069	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350911	SCV000363135	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514010	SCV000609846	likely benign	not provided	2017-06-15	criteria provided, single submitter	clinical testing
Invitae	RCV000514010	SCV001035079	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001526752	SCV001737256	benign	Usher syndrome type 1F	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000514010	SCV001852436	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490549	SCV002796117	likely benign	Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F	2021-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514010	SCV004125390	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PCDH15: BP4, BS2
Natera, Inc.	RCV001526752	SCV002089171	benign	Usher syndrome type 1F	2019-10-18	no assertion criteria provided	clinical testing