ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3407C>T (p.Ala1136Val)

gnomAD frequency: 0.00001  dbSNP: rs375417370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624834 SCV000742042 uncertain significance Inborn genetic diseases 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060691 SCV002355006 likely benign not provided 2022-11-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745506 SCV005347562 uncertain significance ARID1A-related disorder 2024-07-15 no assertion criteria provided clinical testing The ARID1A c.3407C>T variant is predicted to result in the amino acid substitution p.Ala1136Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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