ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser)

dbSNP: rs753225455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330361 SCV001522014 uncertain significance Intellectual developmental disorder, autosomal recessive 68 2019-11-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546386 SCV003706808 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.1078G>A (p.G360S) 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 1078, causing the glycine (G) at amino acid position 360 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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