Submissions for variant NM_000350.3(ABCA4):c.885del (p.Leu296fs)

gnomAD frequency: 0.00002  dbSNP: rs764759172

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000505141	SCV001239235	pathogenic	Retinal dystrophy	2019-08-15	criteria provided, single submitter	clinical testing
Invitae	RCV001857213	SCV002152547	pathogenic	not provided	2023-12-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu296Cysfs*4) 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 (rs764759172, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 21911583, 27739528, 28947085). 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: 438109). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505141	SCV000599026	pathogenic	Retinal dystrophy	2015-01-01	no assertion criteria provided	research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787527	SCV000926495	likely pathogenic	Stargardt disease	2018-04-01	no assertion criteria provided	research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787781	SCV000926789	pathogenic	Progressive cone dystrophy (without rod involvement)	2018-04-01	no assertion criteria provided	research