ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)

gnomAD frequency: 0.00004  dbSNP: rs746014701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261708 SCV002541939 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325715 SCV002609447 uncertain significance Cardiovascular phenotype 2019-03-04 criteria provided, single submitter clinical testing The p.I10613T variant (also known as c.31838T>C), located in coding exon 126 of the TTN gene, results from a T to C substitution at nucleotide position 31838. The isoleucine at codon 10613 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002481070 SCV002777174 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing
GeneDx RCV002261708 SCV005369708 uncertain significance not provided 2023-06-02 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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