ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5970_5990del (p.Thr1992_Val1998del)

dbSNP: rs1659426203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066937 SCV001231961 pathogenic not provided 2022-08-22 criteria provided, single submitter clinical testing This variant, c.5970_5990del, results in the deletion of 7 amino acid(s) of the ABCA4 protein (p.Thr1992_Val1998del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCA4 protein in which other variant(s) (p.Gly1994Glu) have been determined to be pathogenic (PMID: 32619608; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 860601). This variant has been observed in individual(s) with clinical features of Stargardt disease (Invitae). This variant is not present in population databases (gnomAD no frequency).

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