ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter)

dbSNP: rs1131691612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493820 SCV000582481 pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing The L1546X nonsense variant in the ABCA4 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has not been reported previously to our knowledge. A nearby nonsense variant (K1547X) has been reported in the Human Gene Mutation Database in association with Stargardt disease (Stenson et al., 2014). Therefore, we interpret L1546X as a pathogenic variant.

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