Submissions for variant NM_001384140.1(PCDH15):c.3807-6T>G

gnomAD frequency: 0.00006  dbSNP: rs727504791

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156110	SCV000205823	uncertain significance	not specified	2013-10-16	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The 3807-6T>G varia nt in PCDH15 has not been reported in the literature and data from large populat ion studies is insufficient to assess the frequency of this variant. This varian t is located in the 3' splice region but not in the invariant -1/-2 splice site positions of the splice site consensus sequence. Computational tools do not sugg est an impact to splicing, though this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of this variant can not be determined with certainty; however, based upon the computational data, we lean towards a more likely benign role.
Counsyl	RCV000668863	SCV000793536	uncertain significance	Usher syndrome type 1F	2017-08-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001246357	SCV001419704	likely benign	not provided	2024-05-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001246357	SCV004229827	uncertain significance	not provided	2023-01-05	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant may interfere with normal RNA splicing.
Natera, Inc.	RCV000668863	SCV001456412	uncertain significance	Usher syndrome type 1F	2020-03-10	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544448	SCV004788222	likely benign	PCDH15-related disorder	2019-02-21	no assertion criteria provided	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).