ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)

gnomAD frequency: 0.00024  dbSNP: rs202043854
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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 RCV000227419 SCV000288170 uncertain significance Baller-Gerold syndrome 2025-01-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 387 of the RECQL4 protein (p.Gly387Arg). This variant is present in population databases (rs202043854, gnomAD 0.04%). 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: 239693). 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.
Eurofins Ntd Llc (ga) RCV000728112 SCV000855646 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764766 SCV000895904 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001292660 SCV001481261 uncertain significance Rothmund-Thomson syndrome type 2 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000728112 SCV001797022 uncertain significance not provided 2023-07-20 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001292660 SCV003928037 uncertain significance Rothmund-Thomson syndrome type 2 2023-05-08 criteria provided, single submitter clinical testing The RECQL4 c.1159G>A (p.Gly387Arg) missense change has a maximum subpopulation frequency of 0.040% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools predict a benign effect of this variant on protein function, but to our knowledge functional studies have not been performed. This variant has been identified in 5 of 1358 control individuals collected as part of a non-cancer studies (PMID: 29641532). To our knowledge, this variant has not been reported in individuals with RECQL4-associated conditions. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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