ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.4810G>A (p.Ala1604Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003099083 SCV003481347 benign not provided 2023-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738677 SCV005353137 uncertain significance TRRAP-related disorder 2024-09-26 no assertion criteria provided clinical testing The TRRAP c.4735G>A variant is predicted to result in the amino acid substitution p.Ala1579Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0048% 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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