ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3072del (p.Val1026fs)

gnomAD frequency: 0.00005  dbSNP: rs386833852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543467 SCV000631150 pathogenic Baller-Gerold syndrome 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1026Cysfs*18) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant is present in population databases (rs386833852, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with RAPADILINO syndrome (PMID: 18716613). ClinVar contains an entry for this variant (Variation ID: 56407). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001092986 SCV001249748 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049820 SCV000082229 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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