ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2161-6T>C

gnomAD frequency: 0.00001  dbSNP: rs998974599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236257 SCV001408973 likely pathogenic not provided 2023-06-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 962406). This variant has been observed in individuals with clinical features of ABCA4-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein.

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