ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr)

gnomAD frequency: 0.00024  dbSNP: rs970075256
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460076 SCV000546015 uncertain significance Baller-Gerold syndrome 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 717 of the RECQL4 protein (p.Ala717Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 407039). 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.
GeneDx RCV001574356 SCV001801161 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002258905 SCV002527857 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-08 criteria provided, single submitter curation
Ambry Genetics RCV002525551 SCV003547006 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.2149G>A (p.A717T) alteration is located in exon 13 (coding exon 13) of the RECQL4 gene. This alteration results from a G to A substitution at nucleotide position 2149, causing the alanine (A) at amino acid position 717 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004737515 SCV005357535 uncertain significance RECQL4-related disorder 2024-08-16 no assertion criteria provided clinical testing The RECQL4 c.2149G>A variant is predicted to result in the amino acid substitution p.Ala717Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0% of alleles in individuals of African descent in gnomAD. 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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