Submissions for variant NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)

dbSNP: rs746541266

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408545	SCV000281876	pathogenic	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092801	SCV001249462	pathogenic	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198725	SCV001369720	pathogenic	Age related macular degeneration 2	2019-12-05	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001092801	SCV001586253	pathogenic	not provided	2020-04-06	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant has been observed in individual(s) with ABCA4-related conditions (PMID: 25474345, 28118664, 29555955). ClinVar contains an entry for this variant (Variation ID: 236106). This variant is present in population databases (rs746541266, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Gln1291*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity	RCV001092801	SCV002018148	pathogenic	not provided	2019-07-31	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816406	SCV005072192	pathogenic	Retinal dystrophy	2017-01-01	criteria provided, single submitter	clinical testing