ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)

gnomAD frequency: 0.00004  dbSNP: rs755117644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592710 SCV000705899 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000592710 SCV001801721 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798912 SCV002042990 uncertain significance Cardiomyopathy 2019-09-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488719 SCV004241735 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing Variant summary: TTN c.70335A>C (p.Glu23445Asp) results in a conservative amino acid change located in the A-band region of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.6e-05 in 1613346 control chromosomes (i.e., 75 alleles, no homozygotes), predominantly at a frequency of 5.7e-05 within the Non-Finnish European subpopulation in the gnomAD v4.0.0 database. This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Cardiomyopathy (5.7e-05 vs 0.00063), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.70335A>C in individuals affected with TTN-related disorders and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Two submitters classified the variant as uncertain significance, and one submitter classified it as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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