ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.829dup (p.Leu277fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282855 SCV002570715 likely pathogenic Mitochondrial DNA depletion syndrome 1 2022-07-13 criteria provided, single submitter clinical testing Variant summary: TYMP c.829dupC (p.Leu277ProfsX213+) causes a frameshift which alters the last 3 exons and results in an extension of the protein. The variant was absent in 146814 control chromosomes (gnomAD). To our knowledge, no occurrence of c.829dupC in individuals affected with Mitochondrial DNA Depletion Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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