ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) (rs386833848)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801697 SCV000941489 uncertain significance Baller-Gerold syndrome 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 637 of the RECQL4 protein (p.Phe637Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Rapadilino syndrome (PMID: 18716613). ClinVar contains an entry for this variant (Variation ID: 56403). Experimental studies have shown that this missense change abolishes the helicase and ATPase activities of the RECQL4 protein (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) RCV000049816 SCV000082225 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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