Submissions for variant NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)

gnomAD frequency: 0.00037  dbSNP: rs140482171

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000512657	SCV000335433	uncertain significance	not provided	2016-10-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270788	SCV000359484	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328209	SCV000359485	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385092	SCV000359486	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264059	SCV000359487	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512657	SCV000608483	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	ABCA4: PM5, BP4
Blueprint Genetics	RCV001073584	SCV001239135	uncertain significance	Retinal dystrophy	2019-07-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102037	SCV001258685	uncertain significance	ABCA4-Related Disorders	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000512657	SCV001722394	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV001073584	SCV004705954	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003920064	SCV004733996	likely benign	ABCA4-related condition	2022-11-30	criteria provided, single submitter	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).
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505101	SCV000598934	likely pathogenic	Severe early-childhood-onset retinal dystrophy	2015-01-01	no assertion criteria provided	research
GenomeConnect, ClinGen	RCV000844930	SCV000986746	not provided	Stargardt disease		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 12/28/2017 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.