ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1704G>A (p.Lys568=) (rs878854642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233222 SCV000288189 uncertain significance Baller-Gerold syndrome 2018-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 568 of the RECQL4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RECQL4 protein. It also falls at the the last nucleotide of exon 10 of the RECQL4 coding sequence. This variant is not present in population databases (ExAC no frequency). This variant has been reported as heterozygous in an individual affected with Rothmund–Thomson syndrome (PMID: 12734318), but the evidence in this report is insufficient to determine its role in disease. This variant is also known as g.3427G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 239703). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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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