ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3256G>A (p.Gly1086Arg)

gnomAD frequency: 0.00003  dbSNP: rs587778646
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476846 SCV000546020 uncertain significance Baller-Gerold syndrome 2023-11-13 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 1086 of the RECQL4 protein (p.Gly1086Arg). This variant is present in population databases (rs587778646, gnomAD 0.004%). 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: 135149). 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%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153401 SCV003843785 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691757 SCV005196226 uncertain significance not provided criteria provided, single submitter not provided
ITMI RCV000121950 SCV000086157 not provided not specified 2013-09-19 no assertion provided reference population

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