ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys)

gnomAD frequency: 0.00006  dbSNP: rs587778051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575617 SCV001802653 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001575617 SCV002972418 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1323 of the ARID1A protein (p.Arg1323Cys). This variant is present in population databases (rs587778051, 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: 133548). 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 ARID1A protein function. 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.
ITMI RCV000120061 SCV000084197 not provided not specified 2013-09-19 no assertion provided reference population

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