ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)

gnomAD frequency: 0.00076  dbSNP: rs200594798
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724998 SCV000238290 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983)
Invitae RCV001086431 SCV000286495 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-17 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000724998 SCV000333078 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000329170 SCV001475751 benign not specified 2020-06-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000329170 SCV002104069 likely benign not specified 2022-02-07 criteria provided, single submitter clinical testing Variant summary: TTN c.17270A>G (p.Lys5757Arg) results in a conservative amino acid change located in the I-band region of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00018 in 248682 control chromosomes, predominantly at a frequency of 0.0028 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 7 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 found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.17270A>G in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (Likely Benign/Benign, n=3; VUS, n=1). Based on the evidence outlined above, the variant was classified as likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724998 SCV001978506 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724998 SCV001980133 uncertain significance not provided no assertion criteria provided clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino RCV002222434 SCV002500848 likely pathogenic Toe walking no assertion criteria provided clinical testing

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