ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)

gnomAD frequency: 0.00008  dbSNP: rs762632312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408453 SCV000281926 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV001854786 SCV002257075 uncertain significance not provided 2022-07-03 criteria provided, single submitter clinical testing This sequence change affects codon 1826 of the ABCA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCA4 protein. This variant is present in population databases (rs762632312, gnomAD 0.003%). This variant has been observed in individual(s) with Stargardt disease (PMID: 28118664). ClinVar contains an entry for this variant (Variation ID: 236132). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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