ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1473+5G>A

gnomAD frequency: 0.00004  dbSNP: rs376233776
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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 RCV001362219 SCV001558226 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant is present in population databases (rs376233776, gnomAD 0.005%). This sequence change falls in intron 11 of the PDE6A gene. It does not directly change the encoded amino acid sequence of the PDE6A protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1053825). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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