ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.108del (p.Leu37fs)

dbSNP: rs62642569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074684 SCV001240277 likely pathogenic Retinal dystrophy 2019-03-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085373 SCV001247766 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing ABCA4: PVS1, PM3:Strong, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000085373 SCV004293334 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu37Trpfs*3) 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: 10090887, 32531858). ClinVar contains an entry for this variant (Variation ID: 99030). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074684 SCV005072626 pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085373 SCV000117510 not provided not provided no assertion provided not provided

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