ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) (rs201922910)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000184654 SCV000708682 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765567 SCV000896882 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 RCV000184654 SCV000237342 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The G17825A variant (reported as G10401A due to the use of an alternate isoform) has been reported in association with hypertrophic cardiomyopathy (HCM) in a patient who also harbored additional cardiogenetic variants (Lopes et al., 2013). This variant is observed in 38/126070 (0.03%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The G17825A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This is a missense variant in a gene in which most reported pathogenic variants associated with cardiomyopathy are truncating/loss-of-function (Stenson et al., 2014). Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Illumina Clinical Services Laboratory,Illumina RCV000387758 SCV000422647 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274852 SCV000422648 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330015 SCV000422649 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375191 SCV000422650 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280756 SCV000422651 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335906 SCV000422652 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing

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