Submissions for variant NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)

gnomAD frequency: 0.00004  dbSNP: rs146591309

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595544	SCV000704488	pathogenic	not provided	2016-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000595544	SCV001229785	pathogenic	not provided	2024-10-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg257*) 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 (rs146591309, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 17110911, 24339724). This variant is also known as Arg256>Ter. ClinVar contains an entry for this variant (Variation ID: 437984). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073963	SCV001239528	pathogenic	Retinal dystrophy	2018-08-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000595544	SCV001371066	pathogenic	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376482	SCV001573642	likely pathogenic	Retinitis pigmentosa 43	2021-04-08	criteria provided, single submitter	research	The PDE6A c.769C>T 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. Based on this evidence we have classified this variant as Likely Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000595544	SCV001762216	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001073963	SCV005069699	pathogenic	Retinal dystrophy	2019-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001376482	SCV005670666	pathogenic	Retinitis pigmentosa 43	2024-06-20	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504959	SCV000598727	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV000504959	SCV001161180	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research