Submissions for variant NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)

dbSNP: rs1662208035

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001240591	SCV001413554	pathogenic	not provided	2024-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr245*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinal disease (PMID: 19074458, 23755871). ClinVar contains an entry for this variant (Variation ID: 966011). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich	RCV001352995	SCV001548087	likely pathogenic	Cone-rod dystrophy 3	2021-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001240591	SCV002817964	pathogenic	not provided	2022-06-27	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: 29099798, 25525159, 33546218, 34945039, 23755871, 32244552, 19074458, 21911583, 15192030, 28947085)
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	RCV004557479	SCV005046930	pathogenic	Stargardt disease 3		no assertion criteria provided	research