ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1131C>G (p.Cys377Trp)

gnomAD frequency: 0.00001  dbSNP: rs775741824
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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) RCV000593247 SCV000704058 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532432 SCV003731061 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.1131C>G (p.C377W) alteration is located in exon 11 (coding exon 11) of the TRMU gene. This alteration results from a C to G substitution at nucleotide position 1131, causing the cysteine (C) at amino acid position 377 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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