ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2059-10_2069dup (rs1554898831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528759 SCV000631057 uncertain significance Baller-Gerold syndrome 2017-05-16 criteria provided, single submitter clinical testing This sequence change inserts 21 nucleotides in exon 13 of the RECQL4 mRNA (c.2059-10_2069dup). This leads to the insertion of 7 amino acid residues in the RECQL4 protein (Leu691insProHisGlnAlaLeuLeuThr) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RECQL4-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this variant is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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