ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1921-9C>G

dbSNP: rs1577301137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208611 SCV001380009 pathogenic not provided 2024-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the PDE6B gene. It does not directly change the encoded amino acid sequence of the PDE6B protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 30820151). ClinVar contains an entry for this variant (Variation ID: 812372). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 30820151). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818141 SCV005068621 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003116 SCV001161185 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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