ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) (rs886044758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763439 SCV000894206 likely pathogenic Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000480932 SCV000564540 likely pathogenic not provided 2014-01-04 criteria provided, single submitter clinical testing The L2026P missense variant has not been reported previously as a pathogenic variant or as a benign polymorphism to our knowledge. The L2026P amino acid substitution is semi-conservative since there is no change in charge or polarity, although the unique structure of the Proline residue may affect the secondary structure of the protein. The position at which this substitution occurs is conserved in the protein and other missense variants in nearby codons (L2027F, R2030Q) have been reported in association with Stargardt disease (Lewis et al., 1999; Webster et al., 2001; Briggs et al., 2001). Additionally, the L2026P variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, the L2026P missense change is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism can not be excluded.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408446 SCV000281946 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing

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