Submissions for variant NM_000350.3(ABCA4):c.791G>A (p.Arg264His)

dbSNP: rs567985213

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000393402	SCV000359535	uncertain significance	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286376	SCV000359536	uncertain significance	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334279	SCV000359537	uncertain significance	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402094	SCV000359538	uncertain significance	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001241582	SCV001414610	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002522135	SCV003550207	uncertain significance	Inborn genetic diseases	2022-08-17	criteria provided, single submitter	clinical testing	The c.791G>A (p.R264H) alteration is located in exon 7 (coding exon 7) of the ABCA4 gene. This alteration results from a G to A substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University	RCV003888708	SCV004706054	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research