ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.428del (p.Pro143fs)

dbSNP: rs1662504407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Molecular Genetics, University of Zurich RCV001353005 SCV001548099 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001871908 SCV002219177 pathogenic not provided 2021-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro143Argfs*11) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Stargardt diseaase (PMID: 31543898). This variant is not present in population databases (ExAC no frequency).

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