ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.1983+5G>T

dbSNP: rs1560421595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003565438 SCV004313795 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 560484). This variant has not been reported in the literature in individuals affected with PROM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 17 of the PROM1 gene. It does not directly change the encoded amino acid sequence of the PROM1 protein. It affects a nucleotide within the consensus splice site. 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. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678601 SCV000804686 uncertain significance Usher syndrome 2016-09-01 no assertion criteria provided clinical testing

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