ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) (rs943777958)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835252 SCV000977039 likely benign not provided 2019-07-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174731 SCV001338016 uncertain significance not specified 2020-01-06 criteria provided, single submitter clinical testing Variant summary: TTN c.94024G>A (p.Glu31342Lys) results in a conservative amino acid change located in the M-band of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 244972 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.94024G>A in individuals affected with 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 and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000835252 SCV001743963 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000835252 SCV001798202 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000835252 SCV001917301 uncertain significance not provided no assertion criteria provided clinical testing

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