ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) (rs373527654)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040598 SCV000064289 uncertain significance not specified 2012-04-11 criteria provided, single submitter clinical testing The Asn22275Asp variant (TTN) has not been previously reported nor previously id entified by our laboratory. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, and SIFT) do not provide strong support for or a gainst an impact to the protein. Additional information is needed to assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724394 SCV000228537 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000040598 SCV000237534 uncertain significance not specified 2017-06-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The N23202D variant (reported as N22275D due to the use of alternate nomenclature) has been published as a variant of uncertain significance in one patient with a clinical diagnosis of DCM and a family history of DCM, who also harbors other missense variants in the TTN gene (Pugh et al., 2014). Additionally, 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, the N23202D variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N23202D 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.
Invitae RCV000534367 SCV000643652 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621675 SCV000735262 likely benign Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Other strong data supporting benign classification
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852812 SCV000995541 likely benign Ventricular tachycardia 2019-04-01 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293173 SCV001434170 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research

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