Submissions for variant NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)

dbSNP: rs62653029

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001075085	SCV001240696	pathogenic	Retinal dystrophy	2018-07-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002514521	SCV003444565	pathogenic	Primary ciliary dyskinesia	2023-12-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu460Ilefs*2) in the RPGR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGR are known to be pathogenic (PMID: 16055928, 16969763). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 10480356, 31953110). This variant is also known as c.1435_1436del. ClinVar contains an entry for this variant (Variation ID: 98739). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV000085054	SCV003804535	likely pathogenic	not provided	2020-02-19	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV004566977	SCV005055451	pathogenic	X-linked cone-rod dystrophy 1	2024-03-24	criteria provided, single submitter	clinical testing
Retina International	RCV000085054	SCV000117190	not provided	not provided		no assertion provided	not provided