ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3330C>A (p.Gly1110=)

dbSNP: rs762909447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478879 SCV001683156 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587165 SCV005077677 uncertain significance not specified 2024-04-17 criteria provided, single submitter clinical testing Variant summary: ABCA4 c.3330C>A (p.Gly1110Gly) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251416 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3330C>A has been reported in the literature in individuals affected with Stargardt Disease (Cornelis_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Stargardt Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 35120629). ClinVar contains an entry for this variant (Variation ID: 1141438). Based on the evidence outlined above, the variant was classified as uncertain significance.

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