ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1820C>G (p.Ala607Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818440 SCV000959054 uncertain significance Baller-Gerold syndrome 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 607 of the RECQL4 protein (p.Ala607Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. 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. 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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