ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3454_3456GAG[1] (p.Glu1153del) (rs780986647)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471218 SCV000545939 uncertain significance Baller-Gerold syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 20 of the RECQL4 mRNA (c.3457_3459delGAG). This leads to the deletion of 1 amino acid residue in the RECQL4 protein (p.Glu1153del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780986647, ExAC 0.02%). This variant has not been reported in the literature in individuals with a RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 406968). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a novel in-frame change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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