ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003553940 SCV004292524 pathogenic not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr808*) 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 Stargardt disease (PMID: 24632595, 32845068, 33301772). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036807 SCV005659563 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-02-22 criteria provided, single submitter clinical testing
Wuhan Primbio Medical Laboratory RCV003445397 SCV004174063 pathogenic Severe early-childhood-onset retinal dystrophy 2023-11-10 no assertion criteria provided clinical testing This sequence change creates a premature translational stop signal (p.Tyr808Ter) 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 variant has been reported in the literature in individuals affected with ABCA4-related conditions (PMID: 26780318;PMID: 35410501;PMID: 33988224). For these reasons, this variant has been classified as Pathogenic.

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