ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del)

dbSNP: rs1467000353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091947 SCV001248249 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Invitae RCV001091947 SCV001562813 pathogenic not provided 2023-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Stargardt Disease (PMID: 23419329, 28446513, 28947085; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.4249_4251del, results in the deletion of 1 amino acid(s) of the ABCA4 protein (p.Phe1417del), but otherwise preserves the integrity of the reading frame.

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