ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1938-619A>G

dbSNP: rs2101076246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999933 SCV002233253 pathogenic not provided 2024-06-17 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Stargardt disease (PMID: 25082829, 32307445). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1452678). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 31397521). For these reasons, this variant has been classified as Pathogenic.

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