ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) (rs61752406)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408572 SCV000281845 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085488 SCV000484493 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000085488 SCV000511887 pathogenic not provided 2018-08-11 criteria provided, single submitter clinical testing The W855X variant in the ABCA4 gene has been reported previously in association with autosomal recessive Stargardt disease when in trans with another disease-causing variant (Rivera et al., 2000; Duncker et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W855X variant is observed in 5/111,648 (0.0045%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). We interpret W855X as a pathogenic variant.
Invitae RCV000085488 SCV001219878 pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp855*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752406, ExAC 0.006%). This variant has been observed in individuals affected with ABCA4-related disease (PMID: 12192456, 25312043, 28118664, 17982420). ClinVar contains an entry for this variant (Variation ID: 99144). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Blueprint Genetics RCV001073601 SCV001239152 pathogenic Retinal dystrophy 2019-07-12 criteria provided, single submitter clinical testing
Retina International RCV000085488 SCV000117625 not provided not provided no assertion provided not provided

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