ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) (rs560306385)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591100 SCV000701478 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251361 SCV001426933 likely benign not specified 2020-07-20 criteria provided, single submitter clinical testing Variant summary: TTN c.91856A>C (p.Lys30619Thr) results in a non-conservative amino acid change located in the A-band region 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 9.4e-05 in 392134 control chromosomes, predominantly at a frequency of 0.0005 within the Latino subpopulation in the gnomAD database (gnomAD v2 exomes dataset, and gnomAD v3 genomes dataset). The observed variant frequency within Latino control individuals in the gnomAD database is approximately 1.3 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00039), strongly suggesting that the variant is a benign polymorphism. To our knowledge, no occurrence of c.91856A>C 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, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
GeneDx RCV000591100 SCV001820825 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing

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