ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2754G>A (p.Glu918=) (rs1060501377)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466885 SCV000545967 uncertain significance Baller-Gerold syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Silent) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. 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 disease. ClinVar contains an entry for this variant (Variation ID: 406995). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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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