ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)

dbSNP: rs757557272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255556 SCV000321330 pathogenic not provided 2021-11-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 23982839, 26633542, 29925512, 19352439)
Labcorp Genetics (formerly Invitae), Labcorp RCV000255556 SCV001214189 pathogenic not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg219*) 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 present in population databases (rs757557272, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinal disease (PMID: 19352439, 23982839). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 265008). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075801 SCV001241436 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025403 SCV005656483 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-05-13 criteria provided, single submitter clinical testing

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