ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.84+5G>C (rs1060501367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472684 SCV000545905 uncertain significance Baller-Gerold syndrome 2018-09-10 criteria provided, single submitter clinical testing This variant affects a highly conserved nucleotide within the consensus splice site of intron 1. The majority of introns (75-85%) have a G at this position (PMID: 9536098). While this variant is not present in population databases (ExAC no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a RECQL4-related disease. Nucleotide substitutions at +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional 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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