ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val)

dbSNP: rs764297840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195242 SCV000248688 uncertain significance not specified 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456938 SCV000545989 uncertain significance Baller-Gerold syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 550 of the RECQL4 protein (p.Ala550Val). This variant is present in population databases (rs764297840, gnomAD 0.01%). 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: 212027). 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. 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 RCV000764760 SCV000895898 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737304 SCV005357154 uncertain significance RECQL4-related disorder 2024-06-25 no assertion criteria provided clinical testing The RECQL4 c.1649C>T variant is predicted to result in the amino acid substitution p.Ala550Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/212027/). 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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