ClinVar Miner

Submissions for variant NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) (rs876657718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225461 SCV000282598 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220232 SCV000271436 pathogenic Retinitis pigmentosa 2015-03-11 criteria provided, single submitter clinical testing The p.Tyr97X variant in PDE6B has not been previously reported in individuals wi th retinitis pigmentosa and was absent from large population studies. This nonse nse variant leads to a premature termination codon at position 97, which is pred icted to lead to a truncated or absent protein. Complete loss of PDE6B function is an established disease mechanism in retinitis pigmentosa. In summary, this va riant meets our criteria to be classified as pathogenic for retinitis pigmentosa in an autosomal recessive manner (www.partners.org/personalizedmedicine/lmm).

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