ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)

dbSNP: rs61749457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085543 SCV000515791 pathogenic not provided 2015-03-18 criteria provided, single submitter clinical testing The T1019A missense variant in the ABCA4 gene has been reported previously in association withStargardt disease (Webster et al.,2001). The T1019A variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Additionally, another missense variant atthe same residue (T1019M) has been reported in the Human Gene Mutation Database in association withStargardt disease (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we consider T1019A to be a pathogenic variant.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796009 SCV005415835 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PM3_Strong+PP4
Retina International RCV000085543 SCV000117680 not provided not provided no assertion provided not provided

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