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

dbSNP: rs754012367

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176038	SCV000227625	pathogenic	not provided	2015-02-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000176038	SCV001401960	pathogenic	not provided	2024-10-30	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. Loss-of-function variants in PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139). This variant is present in population databases (rs754012367, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 195462). 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.
MGZ Medical Genetics Center	RCV001376193	SCV002579893	likely pathogenic	Retinitis pigmentosa 43	2022-05-23	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816276	SCV005070338	pathogenic	Retinal dystrophy	2015-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001376193	SCV005670653	pathogenic	Retinitis pigmentosa 43	2024-04-25	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787640	SCV000926625	pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research