ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) (rs748357067)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596465 SCV000706496 pathogenic not provided 2018-02-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000881 SCV001157963 pathogenic not specified 2019-01-03 criteria provided, single submitter clinical testing The ABCA4 c.123G>A; p.Trp41Ter variant (rs748357067), to our knowledge, is not reported in the medical literature. However, another variant in the same codon leading to the same premature termination codon, c.122G>A; p.Trp41Ter has been reported in individuals with Stargardt or ABCA4-related disease (Cideciyan 2009, Jaakson 2003). The c.123G>A variant has been reported as pathogenic in the ClinVar database (Variation ID: 500506) and in the Genome Aggregation Database in 1 out of 251406 alleles, 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 pathogenic. References: Cideciyan AV et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009 Mar 1;18(5):931-41. Jaakson K et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov;22(5):395-403.

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