Submissions for variant NM_001384140.1(PCDH15):c.3502-14dup

dbSNP: rs5785023

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039727	SCV000063416	benign	not specified	2010-10-29	criteria provided, single submitter	clinical testing	The c.3502-14dupT variant is classified as benign because it has been identified in 26.4% of total chromosomes, including 9873 homozygotes, by gnomAD (http://gn omad-beta.broadinstitute.org/)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590635	SCV000699759	benign	not provided	2017-08-11	criteria provided, single submitter	clinical testing	Variant summary: The PCDH15 c.3502-14dupT variant involves the duplication of an intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 29147/114904 control chromosomes (3844 homozygotes) at a frequency of 0.2536639, which is approximately 80 times the estimated maximal expected allele frequency of a pathogenic PCDH15 variant (0.0031623), strong evidence that this variant is a benign polymorphism. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx	RCV000039727	SCV000729388	benign	not specified	2017-10-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000590635	SCV001720949	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787836	SCV002029420	benign	Usher syndrome type 1F	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787837	SCV002029421	benign	Autosomal recessive nonsyndromic hearing loss 23	2021-09-05	criteria provided, single submitter	clinical testing