ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter)

dbSNP: rs1283350532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073788 SCV001239350 likely pathogenic Retinal dystrophy 2018-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554678 SCV003343990 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1437*) 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 866062). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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