ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)

gnomAD frequency: 0.00001  dbSNP: rs886044725
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408492 SCV000281818 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091615 SCV001247754 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198958 SCV001369953 pathogenic Age related macular degeneration 2 2018-11-15 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001091615 SCV001583712 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236080). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 25346251). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp431*) 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).
GeneDx RCV001091615 SCV004022839 pathogenic not provided 2023-01-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32531858, 28118664, 25346251, 35162940)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816387 SCV005069015 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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