Submissions for variant NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)

dbSNP: rs61752390

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408494	SCV000281815	pathogenic	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000414174	SCV000490366	pathogenic	not provided	2020-11-20	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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12192456, 18214793, 28118664, 29925512, 26377081, 19074458, 10958763, 16540294, 17485292, 25525159, 24550365)
Blueprint Genetics	RCV001074163	SCV001239733	pathogenic	Retinal dystrophy	2019-02-05	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000414174	SCV001446635	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000414174	SCV002241857	pathogenic	not provided	2024-08-29	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr362*) 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 individuals with Stargardt disease (PMID: 10958763, 29925512). ClinVar contains an entry for this variant (Variation ID: 236078). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074163	SCV005070213	pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005025373	SCV005658915	pathogenic	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2024-04-29	criteria provided, single submitter	clinical testing