Submissions for variant NM_152750.5(CDHR3):c.1653+3G>A

gnomAD frequency: 0.01697  dbSNP: rs117797654

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226484	SCV003922436	likely benign	not specified	2023-03-13	criteria provided, single submitter	clinical testing	Variant summary: CDHR3 c.1653+3G>A alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.016 in 247498 control chromosomes, predominantly at a frequency of 0.027 within the Non-Finnish European subpopulation in the gnomAD database, including 50 homozygotes. c.1653+3G>A has been reported in the literature in families affected with Otitis Media, showing incomplete segregation with disease (Hirsch_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV003426184	SCV004155744	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CDHR3: BP4, BS1, BS2
Santos-Cortez Lab, University of Colorado School of Medicine	RCV001839433	SCV001946788	pathogenic	Susceptibility to nonsyndromic otitis media	2013-02-01	no assertion criteria provided	research