Submissions for variant NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)

dbSNP: rs61750149

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085642	SCV002236643	pathogenic	not provided	2023-10-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys1502*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs61750149, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 14517951). ClinVar contains an entry for this variant (Variation ID: 99289). For these reasons, this variant has been classified as Pathogenic.
Retina International	RCV000085642	SCV000117781	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000085642	SCV001922611	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000085642	SCV001951798	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000085642	SCV001971788	pathogenic	not provided		no assertion criteria provided	clinical testing