Submissions for variant NM_000180.4(GUCY2D):c.2649del (p.Phe883fs)

dbSNP: rs1598150748

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Vision Research, Yonsei University College of Medicine	RCV001262104	SCV001370891	pathogenic	Leber congenital amaurosis	2020-07-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770362	SCV004571427	pathogenic	Cone-rod dystrophy 6; Leber congenital amaurosis 1	2023-07-14	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe883Leufs*13) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 982534). This premature translational stop signal has been observed in individual(s) with cone dystrophy and/or leber congenital amaurosis (PMID: 28966547, 31144483, 32165824). This variant is not present in population databases (gnomAD no frequency).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004814038	SCV005072209	likely pathogenic	Retinal dystrophy	2008-01-01	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796397	SCV005417277	pathogenic	Leber congenital amaurosis 1		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PM3_Strong