ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1918C>T (p.Leu640Phe)

gnomAD frequency: 0.00001  dbSNP: rs766559898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050237 SCV001214336 uncertain significance Baller-Gerold syndrome 2023-08-10 criteria provided, single submitter clinical testing 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 expected to disrupt RECQL4 protein function. ClinVar contains an entry for this variant (Variation ID: 846834). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is present in population databases (rs766559898, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 640 of the RECQL4 protein (p.Leu640Phe).

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