ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.264G>A (p.Pro88=)

gnomAD frequency: 0.00001  dbSNP: rs887424420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057528 SCV001222026 uncertain significance Perlman syndrome 2023-09-24 criteria provided, single submitter clinical testing This sequence change affects codon 88 of the DIS3L2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DIS3L2 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 852829). 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.

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