ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val)

dbSNP: rs772573389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050037 SCV001214123 uncertain significance Baller-Gerold syndrome 2023-05-01 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: 846675). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 773 of the RECQL4 protein (p.Ala773Val).
PreventionGenetics, part of Exact Sciences RCV003396664 SCV004105136 uncertain significance RECQL4-related condition 2023-08-04 criteria provided, single submitter clinical testing The RECQL4 c.2318C>T variant is predicted to result in the amino acid substitution p.Ala773Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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