ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg)

gnomAD frequency: 0.00009  dbSNP: rs571635676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634232 SCV000755535 uncertain significance Baller-Gerold syndrome 2024-06-24 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 120 of the RECQL4 protein (p.Gly120Arg). This variant is present in population databases (rs571635676, 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: 528936). 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.
GeneDx RCV001771856 SCV001993546 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002257876 SCV002528343 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter curation

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