ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

gnomAD frequency: 0.00001  dbSNP: rs61749414
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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 RCV000408491 SCV000281835 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085440 SCV001245787 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408491 SCV001548025 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000085440 SCV004292531 pathogenic not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln635*) 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 individual(s) with ABCA4-related conditions (PMID: 10958763, 28559085, 29555955, 32531858). ClinVar contains an entry for this variant (Variation ID: 99096). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085440 SCV000117577 not provided not provided no assertion provided not provided

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