ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) (rs386833850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634336 SCV000755639 uncertain significance Baller-Gerold syndrome 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 697 of the RECQL4 protein (p.Phe697Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with RAPADILINO syndrome (PMID: 18716613).  ClinVar contains an entry for this variant (Variation ID: 56405). Experimental studies have shown that this missense change results in reduced helicase and ATPase activities (PMID: 23238538). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049818 SCV000082227 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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