ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter) (rs1570387558)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001301 SCV001158481 likely pathogenic not specified 2019-06-05 criteria provided, single submitter clinical testing The ABCA4 c.2210T>A; p.Leu737Ter variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as likely pathogenic.

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