ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)

gnomAD frequency: 0.00001  dbSNP: rs752847936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634274 SCV000755577 uncertain significance Baller-Gerold syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1069 of the RECQL4 protein (p.Arg1069His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs752847936, gnomAD 0.007%). 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: 528977). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
GenomeConnect - Invitae Patient Insights Network RCV003483694 SCV004228758 not provided Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-26-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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