ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)

gnomAD frequency: 0.00001  dbSNP: rs768120552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457541 SCV000542743 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356644 SCV002657131 uncertain significance Cardiovascular phenotype 2020-01-21 criteria provided, single submitter clinical testing The p.I19979T variant (also known as c.59936T>C), located in coding exon 155 of the TTN gene, results from a T to C substitution at nucleotide position 59936. The isoleucine at codon 19979 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002506099 SCV002816857 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 2021-09-29 criteria provided, single submitter clinical testing

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