ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)

dbSNP: rs61751397
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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 RCV000408564 SCV000281859 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085546 SCV000748178 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing The Q1029X variant in the ABCA4 gene has been reported previously in association with cone rod dystrophy, when seen in the heterozygous state with a second ABCA4 variant (Klevering et al., 2002; Thiadens et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1029X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1029X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085546 SCV002246989 pathogenic not provided 2023-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1029*) 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 cone-rod dystrophy and Stargardt disease (PMID: 12037008, 28118664, 29555955). ClinVar contains an entry for this variant (Variation ID: 99197). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Retina International RCV000085546 SCV000117683 not provided not provided no assertion provided not provided

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