ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)

gnomAD frequency: 0.00005  dbSNP: rs201117452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490464 SCV000267202 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000490464 SCV001135361 benign Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000132584 SCV001682497 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000132584 SCV001985370 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed with two other variants in the ABCA4 gene in an individual with Stargardt disease in published literature, but it is not known what combination of the variants occurred on the same (in cis) or on different (in trans) chromosomes (Sung et al., 2019); This variant is associated with the following publications: (PMID: 23424971, 29975949, 33090715, 33301772)
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132584 SCV000172528 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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