ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)

gnomAD frequency: 0.00006  dbSNP: rs778345898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364065 SCV000343853 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000364065 SCV004559749 likely benign not provided 2023-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745325 SCV005348881 uncertain significance ARID1A-related disorder 2024-08-28 no assertion criteria provided clinical testing The ARID1A c.1715C>T variant is predicted to result in the amino acid substitution p.Thr572Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian 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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