ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2428C>T (p.Gln810Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785974 SCV005402286 pathogenic Rothmund-Thomson syndrome type 2 2024-01-29 criteria provided, single submitter clinical testing The RECQL4 c.2428C>T (p.Gln810Ter) change is a nonsense variant that is predicted to cause premature protein truncation or absence of protein due to nonsense-mediated decay. This variant has been reported in the homozygous state in an individual with Rothmund–Thomson syndrome (PMID: 12734318). This variant is also absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005105072 SCV005835701 pathogenic Baller-Gerold syndrome 2024-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln810*) 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 premature translational stop signal has been observed in individual(s) with Rothmund–Thomson syndrome (PMID: 12734318). 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.

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