ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003010887 SCV003720124 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.1054G>A (p.G352R) alteration is located in exon 8 (coding exon 8) of the TRMT1 gene. This alteration results from a G to A substitution at nucleotide position 1054, causing the glycine (G) at amino acid position 352 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140212 SCV003821520 uncertain significance Intellectual developmental disorder, autosomal recessive 68 2022-01-12 criteria provided, single submitter clinical testing

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