ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1176C>T (p.Val392=)

gnomAD frequency: 0.00021  dbSNP: rs770533125
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355404 SCV000439312 uncertain significance Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274675 SCV000439313 uncertain significance Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000916747 SCV000515216 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000916747 SCV001061998 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148523 SCV001309426 uncertain significance Mitochondrial DNA depletion syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001272324 SCV001454199 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2020-06-05 no assertion criteria provided clinical testing

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