Submissions for variant NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)

dbSNP: rs369606728

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000659095	SCV000704806	uncertain significance	not provided	2016-12-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659095	SCV000780905	uncertain significance	not provided	2018-03-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000988035	SCV001137584	likely benign	Occult macular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000659095	SCV001550111	uncertain significance	not provided		no assertion criteria provided	clinical testing	The RP1L1 p.Glu1323_Glu1324ins16 variant was not identified in the literature nor was it identified in the Cosmic or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs369606728), ClinVar (reported as uncertain significance by EGL Genetics) and Clinvitae. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). This variant is an in-frame insertion; the impact of this alteration on RP1L1 protein function is not known and computational analyses (MutationTaster and BLOSUM) provide inconsistent predictions regarding the impact to the protein. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.