ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)

gnomAD frequency: 0.00060  dbSNP: rs200132571
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381575 SCV000380531 uncertain significance Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000874485 SCV001016665 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000874485 SCV002584421 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003957607 SCV004769242 likely benign TSFM-related disorder 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001277411 SCV001464360 benign Encephalomyopathy with respiratory failure and lactic acidosis 2020-07-15 no assertion criteria provided clinical testing

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