ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)

gnomAD frequency: 0.00004  dbSNP: rs757957389
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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) RCV000307815 SCV000341104 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001358751 SCV001554602 uncertain significance not specified 2021-03-25 criteria provided, single submitter clinical testing Variant summary: TTN c.70679G>A (p.Arg23560His) results in a non-conservative amino acid change located in the A-band domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 247990 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.70679G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002338849 SCV002644676 uncertain significance Cardiovascular phenotype 2020-06-24 criteria provided, single submitter clinical testing The p.R17063H variant (also known as c.51188G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 51188. The arginine at codon 17063 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001358751 SCV006068198 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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