ClinVar Miner

Submissions for variant NM_152383.4(DIS3L2):c.1923+3G>A (rs763148451)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468807 SCV000551587 uncertain significance Perlman syndrome 2016-08-22 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the DIS3L2 gene. It does not directly change the encoded amino acid sequence of the DIS3L2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs763148451, ExAC <0.01%) but has not been reported in the literature in individuals with a DIS3L2-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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