ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1203del (p.Glu401fs) (rs1220902289)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684868 SCV000812329 pathogenic Baller-Gerold syndrome 2018-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu401Aspfs*5) 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. 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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