ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)

gnomAD frequency: 0.00001  dbSNP: rs911580078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594953 SCV000702800 pathogenic not provided 2016-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594953 SCV001393870 pathogenic not provided 2024-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp782*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 23143460, 27874104, 29114839). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 498001). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005027700 SCV005659573 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-06-11 criteria provided, single submitter clinical testing

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