ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1970C>T (p.Ala657Val)

gnomAD frequency: 0.00001  dbSNP: rs1279119304
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209783 SCV001381233 uncertain significance Baller-Gerold syndrome 2023-03-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 657 of the RECQL4 protein (p.Ala657Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 940242). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions.

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