ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1704+1G>A (rs760363252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726750 SCV000702765 pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV000793666 SCV000933030 likely pathogenic Baller-Gerold syndrome 2018-12-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the RECQL4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs760363252, ExAC 0.002%). This variant has been observed in an individual affected with Rothmund-Thomson syndrome who also carried another RECQL4 variant in trans (PMID: 20503338). ClinVar contains an entry for this variant (Variation ID: 6077). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000006450 SCV000026633 pathogenic Rothmund-Thomson syndrome 2010-06-01 no assertion criteria provided literature only

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