ClinVar Miner

Submissions for variant NM_133378.4(TTN):c.52301A>G (rs199512049)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172654 SCV000054972 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040427 SCV000064118 uncertain significance not specified 2012-04-12 criteria provided, single submitter clinical testing The Asp17434Gly variant (TTN) has been identified in 5/6594 European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS). This frequency raises the possibility that the varia nt is benign but is too low to confidently exclude a disease causing role. Compu tational analyses (biochemical amino acid properties, conservation, AlignGVGD, a nd SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to further assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172654 SCV000228280 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000040427 SCV000237361 uncertain significance not specified 2015-08-21 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM,CARDIOMYOPATHY panel(s).
Invitae RCV000472663 SCV000543160 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768977 SCV000900350 uncertain significance Cardiomyopathy 2016-08-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001132010 SCV001291661 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001132952 SCV001292636 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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