ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu)

dbSNP: rs200629599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243737 SCV001416918 uncertain significance Baller-Gerold syndrome 2023-04-20 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 968570). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 985 of the RECQL4 protein (p.Val985Leu).
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003153957 SCV003843003 uncertain significance Rothmund-Thomson syndrome type 2 2023-01-19 criteria provided, single submitter clinical testing The RECQL4 c.2953G>C (p.Val985Leu) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools predict a benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. 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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