ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) (rs386833851)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174890 SCV000226283 pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000535585 SCV000631089 pathogenic Baller-Gerold syndrome 2018-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg826*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386833851, ExAC 0.01%). This variant has been reported in individuals affected with Rothmund–Thomson syndrome (PMID: 12734318, 18716613). This variant is also referred to as g.3685G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 56406). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049819 SCV000082228 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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