ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) (rs754012367)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176038 SCV000227625 pathogenic not provided 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000176038 SCV001401960 pathogenic not provided 2020-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp778Leufs*42) in the PDE6A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 195462). Loss-of-function variants in PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000176038 SCV001447243 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376193 SCV001573245 pathogenic Retinitis pigmentosa 43 2021-04-08 criteria provided, single submitter research The PDE6A c.2332_2335del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787640 SCV000926625 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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