ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter)

dbSNP: rs1752223896
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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 RCV001060773 SCV001225484 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln615*) in the PDE6A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 855493).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001060773 SCV001762253 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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