ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87671T>C (p.Ile29224Thr)

gnomAD frequency: 0.00001  dbSNP: rs878915392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249199 SCV000319188 uncertain significance Cardiovascular phenotype 2013-09-18 criteria provided, single submitter clinical testing The p.I26656T variant (also known as c.79967T>C) is located in coding exon 276 of the TTNgene. This alteration results from a T to C substitution at nucleotide position 79967. The isoleucine at codon 26656 is replaced by threonine, an amino acid with some similar properties. ​ ​This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6063 samples (12126 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species, with threonine as the reference amino acid in three species.In addition, this alteration is predicted to be benign by PolyPhen analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear​
Eurofins Ntd Llc (ga) RCV000343384 SCV000345172 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000343384 SCV003852985 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012)

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