ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1326G>A (p.Glu442=)

gnomAD frequency: 0.00001  dbSNP: rs1184969354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058001 SCV001222533 uncertain significance Baller-Gerold syndrome 2019-04-07 criteria provided, single submitter clinical testing This sequence change falls in intron 442 of the RECQL4 gene. It does not directly change the encoded amino acid sequence of the RECQL4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RECQL4-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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