ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)

dbSNP: rs61752419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085569 SCV003522771 pathogenic not provided 2023-04-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 99218). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 11379881). This sequence change creates a premature translational stop signal (p.Trp1101*) 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).
Retina International RCV000085569 SCV000117706 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505014 SCV000598965 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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