ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)

dbSNP: rs727505075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156515 SCV000206234 uncertain significance not specified 2014-04-09 criteria provided, single submitter clinical testing The Ile12792_Gly12796del variant in TTN has not been previously reported in indi viduals with cardiomyopathy or in large population studies. This variant is a de letion of 5 amino acids at position 12792 and is not predicted to alter the prot ein reading-frame. It is unclear if this deletion will impact the protein. Addit ional information is needed to fully assess the clinical significance of the Ile 12792_Gly12796del variant.
Invitae RCV000543269 SCV000643209 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-22 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the I band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). ClinVar contains an entry for this variant (Variation ID: 179718). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs727505075, gnomAD 0.0009%). This variant, c.46078_46092del, results in the deletion of 5 amino acid(s) of the TTN protein (p.Ile15360_Gly15364del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002408701 SCV002717376 uncertain significance Cardiovascular phenotype 2022-09-23 criteria provided, single submitter clinical testing The c.18883_18897del15 variant (also known as p.I6295_G6299del) is located in coding exon 75 of the TTN gene. This variant results from an in-frame deletion of 15 nucleotides (ATTAAAGACTGTGGC) at nucleotide positions 18883 to 18897. This results in the in-frame deletion of five amino acid residues (isoleucine, lysine, aspartic acid, cysteine, and glycine) from codon 6295 to 6299. These amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002492594 SCV002778583 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 2022-02-03 criteria provided, single submitter clinical testing

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