ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1408-2A>G

dbSNP: rs1060499536
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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 RCV005090048 SCV005834722 pathogenic not provided 2025-01-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 of the PDE6A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 17110911, 26321862). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 225119). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000210743 SCV000266833 pathogenic Retinitis pigmentosa 43 2016-04-07 no assertion criteria provided literature only

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