Submissions for variant NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)

gnomAD frequency: 0.00004  dbSNP: rs767414973

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000667686	SCV000792174	pathogenic	Retinitis pigmentosa 28	2017-06-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733055	SCV000861074	pathogenic	not provided	2018-04-25	criteria provided, single submitter	clinical testing
Invitae	RCV000733055	SCV001228083	pathogenic	not provided	2023-12-26	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys501Valfs*4) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477). This variant is present in population databases (rs767414973, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with retinitis pigmentosa or a retinal dystrophy (PMID: 23591405, 25097241, 26574802). ClinVar contains an entry for this variant (Variation ID: 552429). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073558	SCV001239109	pathogenic	Retinal dystrophy	2019-06-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000733055	SCV001246770	pathogenic	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000667686	SCV003831198	likely pathogenic	Retinitis pigmentosa 28	2022-03-30	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000667686	SCV004195943	pathogenic	Retinitis pigmentosa 28	2023-08-22	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000667686	SCV000804652	pathogenic	Retinitis pigmentosa 28	2016-09-01	no assertion criteria provided	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787605	SCV000926589	likely pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000733055	SCV001920389	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000733055	SCV001955058	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000733055	SCV001980026	pathogenic	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000667686	SCV002076601	pathogenic	Retinitis pigmentosa 28	2020-08-03	no assertion criteria provided	clinical testing