ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)

dbSNP: rs186405108
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Total submissions: 8
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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 RCV000172176 SCV000051100 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172176 SCV000237860 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000204075 SCV000262241 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172176 SCV000338317 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619992 SCV000737090 likely benign Cardiovascular phenotype 2019-06-24 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804904 SCV002051299 uncertain significance not specified 2021-12-20 criteria provided, single submitter clinical testing Variant summary: TTN c.91189G>C (p.Asp30397His) results in a non-conservative amino acid change located in the A-band: Fibronectin type-III 128 domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 248670 control chromosomes, predominantly at a frequency of 0.00039 within the Non-Finnish European subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (0.00021 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.91189G>C in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters have assessed the variant since 2014: two classified the variant as of uncertain significance and two as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV000172176 SCV003823564 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150038 SCV003838512 likely benign Cardiomyopathy 2021-08-30 criteria provided, single submitter clinical testing

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