ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr)

dbSNP: rs201112075
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202789 SCV000257752 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001589086 SCV001816783 likely benign not provided 2020-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001589086 SCV002384028 benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589086 SCV005206423 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004730905 SCV005335547 uncertain significance TRIOBP-related disorder 2024-07-03 no assertion criteria provided clinical testing The TRIOBP c.1591G>A variant is predicted to result in the amino acid substitution p.Ala531Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.26% 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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