ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)

gnomAD frequency: 0.00005  dbSNP: rs142732109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658513 SCV000780284 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000658513 SCV001375399 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000658513 SCV001777977 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed with the R572X pathogenic variant on the same allele (in cis) and with another pathogenic variant on the opposite allele in patients with Stargardt disease in the published literature (Stenirri et al., 2008); Observed with the R572X pathogenic variant in additional patients with Stargardt disease in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all cases (Passerini et al., 2010; Verdina et al., 2012; Sodi et al., 2016); This variant is associated with the following publications: (PMID: 26743751, 19265867, 18652558, 24409374)
Mendelics RCV002249386 SCV002516812 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507145 SCV002815280 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-10-28 criteria provided, single submitter clinical testing

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