ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)

gnomAD frequency: 0.00044  dbSNP: rs202203322
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476940 SCV000546000 benign Baller-Gerold syndrome 2025-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000476940 SCV001137725 uncertain significance Baller-Gerold syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237858 SCV002009902 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258904 SCV002528312 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000476940 SCV005402288 uncertain significance Baller-Gerold syndrome 2024-02-13 criteria provided, single submitter clinical testing The RECQL4 c.3143A>G (p.Lys1048Arg) missense change has a maximum subpopulation frequency of 0.08% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools predict a benign effect on protein function, but this prediction has not been confirmed by functional studies. 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.
PreventionGenetics, part of Exact Sciences RCV004722770 SCV005336406 uncertain significance RECQL4-related disorder 2024-05-20 no assertion criteria provided clinical testing The RECQL4 c.3143A>G variant is predicted to result in the amino acid substitution p.Lys1048Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is listed in ClinVar with conflicting interpretations of likely benign and uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/407025). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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