ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5849G>A (p.Arg1950Gln)

gnomAD frequency: 0.00003  dbSNP: rs759215669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000736094 SCV000864362 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing BS1, BP5; This alteration has an allele frequency that is greater than expected for the associated disease, and was found in a case with an alternate molecular basis for disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768262 SCV004617828 uncertain significance not provided 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1950 of the ARID1A protein (p.Arg1950Gln). This variant is present in population databases (rs759215669, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ARID1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 599459). 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 ARID1A protein function with a negative predictive value of 80%. 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.

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