ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)

gnomAD frequency: 0.00001  dbSNP: rs759563967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073639 SCV001239190 pathogenic Retinal dystrophy 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381541 SCV001579981 pathogenic not provided 2023-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu768*) 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 is present in population databases (rs759563967, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. ClinVar contains an entry for this variant (Variation ID: 865985). 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.
Revvity Omics, Revvity RCV001784630 SCV002021645 likely pathogenic Retinitis pigmentosa 43 2021-04-05 criteria provided, single submitter clinical testing

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