Submissions for variant NM_000350.3(ABCA4):c.859-9T>C

dbSNP: rs529598960

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001065436	SCV001230394	pathogenic	not provided	2024-11-22	criteria provided, single submitter	clinical testing	This sequence change falls in intron 7 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. This variant is present in population databases (rs529598960, gnomAD 0.06%). This variant has been observed in individual(s) with clinical features of ABCA4-related retinal dystropy (PMID: 23982839, 25082829, 25082885, 28327576). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 859348). Studies have shown that this variant alters ABCA4 gene expression (PMID: 29162642). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001074005	SCV001239571	pathogenic	Retinal dystrophy	2018-10-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001065436	SCV001844836	pathogenic	not provided	2024-11-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23982839, 25082885, 25082829, 29925512, 29162642, 36648511, 32037395, 35089312, 28327576, 31964843, 35120629, 33258285, 32307445, 38219857)
Revvity Omics, Revvity	RCV001065436	SCV003828219	likely pathogenic	not provided	2022-06-22	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074005	SCV005068647	likely pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005036373	SCV005656458	likely pathogenic	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2024-05-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536128	SCV004711119	likely benign	ABCA4-related disorder	2019-06-18	no assertion criteria provided	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).