ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) (rs1060501383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462359 SCV000546004 pathogenic Baller-Gerold syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser523Thrfs*35) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (ExAC 0.04%). This variant has been reported in individuals affected with RAPADILINO, Baller-Gerold syndrome, and Rothmund–Thomson syndrome who also had a second pathogenic RECQL4 variant (PMID: 10678659, 12734318, 12838562, 15897384, 15964893, 27247962). This variant is also described as two variants on the same chromosome, c.1568G>C and c.1573delT, or g.2881G>C and g.2886delT, in the literature. ClinVar contains an entry for this variant (Variation ID: 407029). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000478302 SCV000565484 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing The c.1568_1573delGCCCCTinsCCCCC variant in the RECQL4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1568_1573delGCCCCTinsCCCCC variant was not observed in approximately 6400 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.1568_1573delGCCCCTinsCCCCC as a pathogenic variant.

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