ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.752del (p.Ser251fs) (rs1064796290)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485625 SCV000572857 likely pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The c.752delG variant in the RECQL4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.752delG variant causes a frameshift starting with codon Serine 251, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 42 of the new reading frame, denoted p.Ser251ThrfsX42. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.752delG variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.752delG as a likely pathogenic variant.
Invitae RCV000690768 SCV000818494 pathogenic Baller-Gerold syndrome 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser251Thrfs*42) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RECQL4-related disease. ClinVar contains an entry for this variant (Variation ID: 423196). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.

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