Submissions for variant NM_001953.5(TYMP):c.355G>A (p.Gly119Arg)

dbSNP: rs786205559

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000171358	SCV000221555	likely pathogenic	not provided		criteria provided, single submitter	research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004526624	SCV005039861	uncertain significance	not specified	2024-03-18	criteria provided, single submitter	clinical testing	Variant summary: TYMP c.355G>A (p.Gly119Arg) results in a non-conservative amino acid change located in the Glycosyl transferase, family 3 domain (IPR000312) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250694 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.355G>A in individuals affected with Mitochondrial DNA Depletion Syndrome 1 (MNGIE type) and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 191172). Based on the evidence outlined above, the variant was classified as uncertain significance.