ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)

gnomAD frequency: 0.00001  dbSNP: rs765429911
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578767 SCV000680493 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing The R107X nonsense variant in the ABCA4 gene has been published as a pathogenic variant in association with ABCA4-related disorders (Burke et al., 2010; Kjellström et al., 2015; Jiang et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R107X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is interpreted to be pathogenic.
Blueprint Genetics RCV001075053 SCV001240664 pathogenic Retinal dystrophy 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000578767 SCV001376861 pathogenic not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg107*) 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 present in population databases (rs765429911, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Stargardt disease or cone-rod dystrophy (PMID: 20696155, 26261413, 26780318). ClinVar contains an entry for this variant (Variation ID: 488674). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376340 SCV001573454 pathogenic Severe early-childhood-onset retinal dystrophy 2021-04-08 criteria provided, single submitter research The ABCA4 c.319C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1, PM3. Based on this evidence we have classified this variant as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075053 SCV005071527 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027679 SCV005656509 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-05-16 criteria provided, single submitter clinical testing

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