ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) (rs61751410)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408553 SCV000281796 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085379 SCV000890154 pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing The W41X nonsense variant has been reported previously in association with ABCA4-related disorders (Cideciyan et al., 2009; Schulz et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
Invitae RCV000085379 SCV001222994 pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp41*) 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 ABCA4-related retinal dystrophy (PMID: 19074458, 30670881, 25444351). ClinVar contains an entry for this variant (Variation ID: 99036). 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.
Retina International RCV000085379 SCV000117516 not provided not provided no assertion provided not provided

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