ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)

gnomAD frequency: 0.00035  dbSNP: rs762456224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231520 SCV000288220 uncertain significance Baller-Gerold syndrome 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 806 of the RECQL4 protein (p.Gly806Glu). This variant is present in population databases (rs762456224, 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: 239726). 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 expected to disrupt RECQL4 protein function with a positive 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.
GeneDx RCV001753701 SCV001987775 uncertain significance not provided 2020-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478862 SCV002794050 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532896 SCV004116127 uncertain significance RECQL4-related disorder 2024-02-07 no assertion criteria provided clinical testing The RECQL4 c.2417G>A variant is predicted to result in the amino acid substitution p.Gly806Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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