ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)

gnomAD frequency: 0.00001  dbSNP: rs781636798
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000269746 SCV000344083 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000696607 SCV000825173 uncertain significance Baller-Gerold syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 862 of the RECQL4 protein (p.Ser862Leu). This variant is present in population databases (rs781636798, 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: 289690). 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.
Center of Medical Genetics and Primary Health Care RCV001269486 SCV001449054 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000269746 SCV001979568 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000269746 SCV001980505 likely benign not provided no assertion criteria provided clinical testing

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