ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)

gnomAD frequency: 0.00001  dbSNP: rs950940404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525052 SCV000643288 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448711 SCV002734952 uncertain significance Cardiovascular phenotype 2020-07-28 criteria provided, single submitter clinical testing The p.I7718T variant (also known as c.23153T>C), located in coding exon 94 of the TTN gene, results from a T to C substitution at nucleotide position 23153. The isoleucine at codon 7718 is replaced by threonine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002491042 SCV002775514 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 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139803 SCV003822833 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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