ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)

dbSNP: rs1554903709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659112 SCV000780925 likely pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001211921 SCV001383486 pathogenic Baller-Gerold syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly120Alafs*6) 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 not present in population databases (gnomAD no frequency). 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: 547041). For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV001523815 SCV001478174 likely pathogenic Rothmund-Thomson syndrome type 2 2020-12-15 criteria provided, single submitter research

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