ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3541C>T (p.Arg1181Ter) (rs765804620)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469220 SCV000545916 uncertain significance Baller-Gerold syndrome 2016-10-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the RECQL4 mRNA at codon 1181 (p.Arg1181*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 20 amino acids of the RECQL4 protein. This variant is present in population databases (rs765804620, ExAC 0.01%) but has not been reported in the literature in individuals with a RECQL4-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 20 amino acids of the RECQL4 protein are critical for its function. In summary, this variant is a rare truncation with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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