ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1851C>G (p.Phe617Leu)

dbSNP: rs754403044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204654 SCV001375870 uncertain significance Baller-Gerold syndrome 2019-09-05 criteria provided, single submitter clinical testing 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. This variant has been reported to affect RECQL4 protein function (PMID: 28653661). This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is present in population databases (rs754403044, ExAC 0.01%). This sequence change replaces phenylalanine with leucine at codon 617 of the RECQL4 protein (p.Phe617Leu). The phenylalanine residue is highly conserved conserved and there is a small physicochemical difference between phenylalanine and leucine.

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