ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2204G>A (p.Arg735His)

gnomAD frequency: 0.00001  dbSNP: rs773155492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214454 SCV001386137 uncertain significance Baller-Gerold syndrome 2023-04-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs773155492, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 735 of the RECQL4 protein (p.Arg735His). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 944123).

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