ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1264-6T>A

gnomAD frequency: 0.00001  dbSNP: rs1475526153
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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 RCV001203839 SCV001375018 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 935281). This sequence change falls in intron 9 of the PDE6A gene. It does not directly change the encoded amino acid sequence of the PDE6A protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions.

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