ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.74G>A (p.Arg25Lys)

dbSNP: rs1569057032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729340 SCV000856992 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420292 SCV004118602 uncertain significance TRMU-related condition 2023-07-15 criteria provided, single submitter clinical testing The TRMU c.74G>A variant is predicted to result in the amino acid substitution p.Arg25Lys. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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