Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038735 | SCV001202223 | uncertain significance | Baller-Gerold syndrome | 2023-08-17 | 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 not expected to disrupt RECQL4 protein function. ClinVar contains an entry for this variant (Variation ID: 837409). 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 serine, which is neutral and polar, at codon 657 of the RECQL4 protein (p.Ala657Ser). |
Ambry Genetics | RCV002551430 | SCV003676115 | uncertain significance | Inborn genetic diseases | 2021-09-22 | criteria provided, single submitter | clinical testing | The c.1969G>T (p.A657S) alteration is located in exon 12 (coding exon 12) of the RECQL4 gene. This alteration results from a G to T substitution at nucleotide position 1969, causing the alanine (A) at amino acid position 657 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome |
RCV001535478 | SCV001749409 | not provided | Baller-Gerold syndrome; Rapadilino syndrome | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 06-15-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |