ClinVar Miner

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

dbSNP: rs61751410
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Total submissions: 5
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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 Severe early-childhood-onset retinal dystrophy 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085379 SCV001222994 pathogenic not provided 2022-06-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 99036). This premature translational stop signal has been observed in individuals with ABCA4-related retinal dystrophy (PMID: 19074458, 25444351, 30670881). This variant is present in population databases (rs61751410, gnomAD 0.0009%). 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. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085379 SCV001480161 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Retina International RCV000085379 SCV000117516 not provided not provided no assertion provided not provided

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