ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)

dbSNP: rs34134064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539216 SCV000630992 pathogenic Baller-Gerold syndrome 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys389Phefs*33) 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 (rs34134064, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 459307). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV001523816 SCV001478176 pathogenic Rothmund-Thomson syndrome type 2 2020-12-15 criteria provided, single submitter research
Sema4, Sema4 RCV002257792 SCV002527794 likely pathogenic Hereditary cancer-predisposing syndrome 2021-04-04 criteria provided, single submitter curation
Neuberg Centre For Genomic Medicine, NCGM RCV001523816 SCV004171879 likely pathogenic Rothmund-Thomson syndrome type 2 criteria provided, single submitter clinical testing

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