Submissions for variant NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])

dbSNP: rs62642572

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000279411	SCV000359367	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334433	SCV000359368	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390133	SCV000359369	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280655	SCV000359370	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085595	SCV001406919	uncertain significance	not provided	2022-10-24	criteria provided, single submitter	clinical testing	This variant, c.3840_3845del, results in the deletion of 2 amino acid(s) of the ABCA4 protein (p.Asp1281_Ser1282del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs544606479, gnomAD 0.05%). This variant has been observed in individual(s) with retinal dystrophy (PMID: 11328725, 27628848). ClinVar contains an entry for this variant (Variation ID: 298245). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Retina International	RCV000085595	SCV000117733	not provided	not provided		no assertion provided	not provided