Submissions for variant NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)

dbSNP: rs1553193813

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001386481	SCV001586717	pathogenic	not provided	2020-09-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp499*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with inherited retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438087). Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001386481	SCV004036751	pathogenic	not provided	2023-03-24	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32581362, 28041643)
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504841	SCV000598933	likely pathogenic	Retinal dystrophy	2015-01-01	no assertion criteria provided	research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000505559	SCV000599873	pathogenic	Cone-rod dystrophy 3	2017-04-20	no assertion criteria provided	clinical testing