ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.454dup (p.Arg152fs)

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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 RCV002962208 SCV003280709 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg152Profs*7) in the RP1L1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RP1L1 cause disease. This variant is present in population databases (rs778634096, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RP1L1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2069484). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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