ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter)

dbSNP: rs886044731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092802 SCV001249466 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092802 SCV003523421 pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 23982839, 28118664, 28559085). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 242388). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1097*) 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 Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816447 SCV005073419 pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing

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