Submissions for variant NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)

dbSNP: rs786205626

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171480	SCV000221679	likely pathogenic	not provided		criteria provided, single submitter	research
UCLA Clinical Genomics Center, UCLA	RCV000197318	SCV000255448	likely pathogenic	Bothnia retinal dystrophy	2014-02-04	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001075081	SCV001240692	likely pathogenic	Retinal dystrophy	2018-07-16	criteria provided, single submitter	clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001814088	SCV001755498	likely pathogenic	Abnormality of the eye	2021-07-10	criteria provided, single submitter	clinical testing
3billion	RCV000197318	SCV002058155	likely pathogenic	Bothnia retinal dystrophy	2022-01-03	criteria provided, single submitter	clinical testing	This inframe deletion in the non-repeat region can change the length of the protein and disrupt protein function (PM4_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000191289, PMID:26355662, 3billion dataset).It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae	RCV000171480	SCV002237180	pathogenic	not provided	2024-01-10	criteria provided, single submitter	clinical testing	This variant, c.286_297del, results in the deletion of 4 amino acid(s) of the RLBP1 protein (p.Phe96_Phe99del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs786205626, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of retinitis punctata albescens (PMID: 25326637, 26355662, 32188692). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 191289). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003176	SCV001161252	pathogenic	Retinitis punctata albescens	2019-06-23	no assertion criteria provided	research
Faculty of Health Sciences, Beirut Arab University	RCV001257813	SCV001434597	pathogenic	Autosomal recessive retinitis pigmentosa	2015-09-10	no assertion criteria provided	literature only