ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.751+5G>C

gnomAD frequency: 0.00002  dbSNP: rs781255037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659099 SCV000780909 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659099 SCV004514736 uncertain significance not provided 2022-11-24 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 547032). This variant has not been reported in the literature in individuals affected with RP1L1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the RP1L1 gene. It does not directly change the encoded amino acid sequence of the RP1L1 protein. It affects a nucleotide within the consensus splice site.

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