ClinVar Miner

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

gnomAD frequency: 0.00005  dbSNP: rs587778051
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001575617 SCV002972418 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
ITMI RCV000120061 SCV000084197 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004745198 SCV005347187 uncertain significance ARID1A-related disorder 2024-07-27 no assertion criteria provided clinical testing The ARID1A c.3967C>T variant is predicted to result in the amino acid substitution p.Arg1323Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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