ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)

dbSNP: rs62645957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408591 SCV000281791 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075348 SCV001240968 pathogenic Retinal dystrophy 2018-05-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085658 SCV001247768 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085658 SCV001587236 pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99305). This premature translational stop signal has been observed in individual(s) with ABCA4-related retinal disease (PMID: 29555955, 29925512). This variant is present in population databases (rs62645957, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp15*) 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).
Retina International RCV000085658 SCV000117798 not provided not provided no assertion provided not provided

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