ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) (rs372304158)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621440 SCV000736498 uncertain significance Cardiovascular phenotype 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Athena Diagnostics Inc RCV000713946 SCV000844595 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713946 SCV000855092 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764298 SCV000895317 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000185071 SCV000237883 uncertain significance not specified 2017-05-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. While the W31837G variant has not been published in association with cardiomyopathy or skeletal muscle myopathy, it has been reported in a patient with a congenital heart defect (Grunert et al., 2014). This variant was reported as W33478G, c.100432 T>G due to the use of an alternate transcript in patient who harbored additional variants (Grunert et al., 2014). This variant is observed in 26/65986 (0.04%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W31837G variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000390641 SCV000420289 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299494 SCV000420290 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356693 SCV000420291 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273830 SCV000420292 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331220 SCV000420293 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369666 SCV000420294 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000524719 SCV000642491 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-28 criteria provided, single submitter clinical testing

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