ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg)

dbSNP: rs863224254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197532 SCV000252463 uncertain significance not provided 2013-04-10 criteria provided, single submitter clinical testing p.Gly407Arg (GGG>CGG): c.1219 G>C in exon 9 of the TYMP gene (NM_001953.3) The G407R missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Mutations in the TYMP gene are associated with the autosomal recessive disorder mitochondrial DNA depletion syndrome 1 (MNGIE Type). The amino acid change is non-conservative in that a small, uncharged Glycine residue is replaced by a large, positively charged Arginine residue. This change occurs at a highly conserved position in the TYMP protein. Multiple in-silico analysis programs predict that G407R is damaging to the TYMP protein. Based on the currently available information, it is unclear whether G407R is a disease-causing mutation or a rare benign variant. The variant is found in LSME-MITOP panel(s).
Natera, Inc. RCV001828034 SCV002081616 uncertain significance Mitochondrial neurogastrointestinal encephalomyopathy 2021-07-28 no assertion criteria provided clinical testing

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