ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)

gnomAD frequency: 0.00001  dbSNP: rs397517568
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Total submissions: 5
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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 RCV000040230 SCV000063921 uncertain significance not specified 2013-10-29 criteria provided, single submitter clinical testing The Ile11709Phe variant in TTN has been reported in one individual with DCM but did not segregated with disease in one affected relative. This variant has not been identified in large population studies. Computational analyses (biochemica l amino acid properties, conservation, AlignGVGD, and PolyPhen2) suggest that th is variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully as sess the clinical significance of this variant.
Invitae RCV000548833 SCV000643161 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726926 SCV000704204 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622109 SCV000735846 uncertain significance Cardiovascular phenotype 2017-04-21 criteria provided, single submitter clinical testing The p.I5212F variant (also known as c.15634A>T), located in coding exon 59 of the TTN gene, results from an A to T substitution at nucleotide position 15634. The isoleucine at codon 5212 is replaced by phenylalanine, an amino acid with highly 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 RCV002490559 SCV002792882 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 2021-07-26 criteria provided, single submitter clinical testing

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