ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln)

gnomAD frequency: 0.00007  dbSNP: rs559066300
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464034 SCV000545984 uncertain significance Baller-Gerold syndrome 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 751 of the RECQL4 protein (p.Arg751Gln). This variant is present in population databases (rs559066300, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 407010). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RECQL4 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000766011 SCV000897443 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237855 SCV002009917 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523304 SCV003696338 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.2252G>A (p.R751Q) alteration is located in exon 14 (coding exon 14) of the RECQL4 gene. This alteration results from a G to A substitution at nucleotide position 2252, causing the arginine (R) at amino acid position 751 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003237855 SCV004236571 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003237855 SCV005196232 uncertain significance not provided criteria provided, single submitter not provided

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