ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)

gnomAD frequency: 0.00001  dbSNP: rs970768801
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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 RCV001894137 SCV002127285 pathogenic not provided 2022-09-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1358080). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 33691693). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln88*) in the PDE6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6B are known to be pathogenic (PMID: 8394174, 8595886, 22334370).
Fulgent Genetics, Fulgent Genetics RCV002503398 SCV002808758 pathogenic Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40 2022-05-11 criteria provided, single submitter clinical testing

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