ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) (rs534567766)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155776 SCV000205487 uncertain significance not specified 2013-07-18 criteria provided, single submitter clinical testing The Thr20353Ile variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein, though 1 mammal, dolphin, carries an i soleucine (Ile, this variant), raising the possibility that this change may be t olerated. Additional information is needed to fully assess the clinical signific ance of this variant.
GeneDx RCV000155776 SCV000236781 uncertain significance not specified 2015-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244691 SCV000319144 uncertain significance Cardiovascular phenotype 2013-11-20 criteria provided, single submitter clinical testing The p.T20353I variant (also known as c.61058C>T) is located in coding exon 271 of the TTN gene. This alteration results from a C to T substitution at nucleotide position 61058. The threonine at codon 20353 is replaced by isoleucine, an amino acid with 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 reported in 6030 samples (12060 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is not conserved in available vertebrate species, with isoleucine as the reference amino acid in two species. In addition, this alteration is predicted to be benignby PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000934827 SCV001080559 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-02-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170574 SCV001333162 benign Cardiomyopathy 2018-02-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288921 SCV001476361 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing

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