ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs)

dbSNP: rs763671264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387658 SCV001588330 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu455Lysfs*2) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1074385). This premature translational stop signal has been observed in individual(s) with bone spicules, nyctalopia, and vision loss (Invitae). This variant is present in population databases (rs763671264, gnomAD 0.01%).

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