ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met)

gnomAD frequency: 0.00008  dbSNP: rs369950284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634208 SCV000755511 uncertain significance Baller-Gerold syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 690 of the RECQL4 protein (p.Thr690Met). This variant is present in population databases (rs369950284, gnomAD 0.05%). 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: 528913). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Baylor Genetics RCV001829783 SCV002096967 uncertain significance Rothmund-Thomson syndrome type 2 2022-01-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153775 SCV003843742 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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