ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)

gnomAD frequency: 0.00004  dbSNP: rs1451259945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869148 SCV002294119 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1828 of the ARID1B protein (p.Glu1828Lys). ClinVar contains an entry for this variant (Variation ID: 632549). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ARID1B protein function.
Mendelics RCV002249479 SCV002516920 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000779591 SCV000916274 likely pathogenic Coffin-Siris syndrome 1 no assertion criteria provided clinical testing

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