ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) (rs794729250)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184182 SCV000236802 likely benign not provided 2012-09-26 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Invitae RCV001081444 SCV000286412 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254386 SCV000315659 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252028 SCV000318055 likely benign Cardiovascular phenotype 2012-11-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000254386 SCV000844607 benign not specified 2019-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254386 SCV001362592 benign not specified 2019-08-26 criteria provided, single submitter clinical testing Variant summary: TTN c.98083_98084delinsTT (p.Ala32695Phe) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.011 in 280436 control chromosomes in the gnomAD database, including 25 homozygotes. The observed variant frequency is approximately 18 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.98083_98084delinsTT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Human Genetics - Radboudumc,Radboudumc RCV000254386 SCV001955053 benign not specified no assertion criteria provided clinical testing

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