ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700041 SCV000828777 pathogenic Baller-Gerold syndrome 2018-03-27 criteria provided, single submitter clinical testing This sequence change affects a donor 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 0.003%). This variant has not been reported in the literature in individuals affected with RECQL4-related disease. A different variant affecting this nucleotide (c.2464-1G>C) has been determined to be pathogenic (PMID: 12734318, 18716613). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. 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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