Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| MGZ Medical Genetics Center | RCV002289168 | SCV002578992 | uncertain significance | Coffin-Siris syndrome 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003728071 | SCV004530188 | uncertain significance | not provided | 2024-12-05 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2226 of the ARID1B protein (p.Ser2226Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1709353). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ARID1B protein function with a negative predictive value of 95%. 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. |
| Ambry Genetics | RCV004656916 | SCV005159167 | uncertain significance | Inborn genetic diseases | 2024-05-09 | criteria provided, single submitter | clinical testing | The c.6677C>T (p.S2226L) alteration is located in exon 20 (coding exon 20) of the ARID1B gene. This alteration results from a C to T substitution at nucleotide position 6677, causing the serine (S) at amino acid position 2226 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |