ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224947 SCV003920980 likely pathogenic Intellectual disability, autosomal dominant 14 2023-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005102415 SCV005769815 pathogenic not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1096 of the ARID1A protein (p.Tyr1096Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ARID1A-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2500289). 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 expected to disrupt ARID1A protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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