Submissions for variant NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)

gnomAD frequency: 0.19626  dbSNP: rs2275029

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000152704	SCV000166753	benign	not specified	2012-10-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000152704	SCV000202087	benign	not specified	2013-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152704	SCV000303772	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328383	SCV000359236	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382920	SCV000359237	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269749	SCV000359238	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324408	SCV000359239	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000509128	SCV000602326	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096227	SCV001252424	benign	ABCA4-Related Disorders	2018-01-13	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152704	SCV001652924	benign	not specified	2020-06-04	criteria provided, single submitter	clinical testing	The p.Pro1948Pro variant in ABCA4 is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and has been identified in 17.6% (49636/282614) of total chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Invitae	RCV000509128	SCV001733397	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548892	SCV001768894	benign	Severe early-childhood-onset retinal dystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548893	SCV001768895	benign	Retinitis pigmentosa 19	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548894	SCV001768896	benign	Cone-rod dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548895	SCV001768897	benign	Age related macular degeneration 2	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888516	SCV004706503	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
GenomeConnect, ClinGen	RCV000509128	SCV000607279	not provided	not provided		no assertion provided	phenotyping only	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000152704	SCV001742057	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152704	SCV001955612	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152704	SCV001964532	benign	not specified		no assertion criteria provided	clinical testing