ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2773T>G (p.Cys925Gly)

gnomAD frequency: 0.00001  dbSNP: rs765510227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050561 SCV001214676 uncertain significance Baller-Gerold syndrome 2021-12-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 925 of the RECQL4 protein (p.Cys925Gly). 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. ClinVar contains an entry for this variant (Variation ID: 847089). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is present in population databases (rs765510227, gnomAD 0.007%).

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