ClinVar Miner

Submissions for variant NM_002899.5(RBP1):c.387_400del (p.Lys131fs)

gnomAD frequency: 0.00002  dbSNP: rs587783020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514775 SCV003525672 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 156390). This premature translational stop signal has been observed in individual(s) with RBP1-related conditions (PMID: 25445212). This variant is present in population databases (rs587783020, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Lys131Glyfs*7) in the RBP1 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 RBP1 cause disease.
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144471 SCV000189606 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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