ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys)

gnomAD frequency: 0.00003  dbSNP: rs774736458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172323 SCV000054993 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170840 SCV001333460 uncertain significance Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269253 SCV001448576 uncertain significance not specified 2020-11-02 criteria provided, single submitter clinical testing Variant summary: TTN c.40414C>T (p.Arg13472Cys) results in a non-conservative amino acid change located in the A- band region (cardiodb.org) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 247604 control chromosomes. 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.40414C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000172323 SCV002541949 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172323 SCV003819835 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing

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