ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2464-1G>C (rs398124117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174891 SCV000226284 pathogenic not provided 2013-03-04 criteria provided, single submitter clinical testing
Invitae RCV000474405 SCV000545868 pathogenic Baller-Gerold syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change affects the acceptor splice site in intron 14 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 (rs398124117, ExAC 0.01%). This variant has been reported to segregate with Rothmund-Thomson syndrome (RTS) in a single family (PMID: 12734318). Two affected siblings in this family were both homozygous for this variant. It has also been observed in unrelated individuals with RTS (PMID: 18716613). This variant is also known as g.4615G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 94889). 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). For these reasons, this variant has been classified as Pathogenic.

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