ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) (rs72648947)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727793 SCV000238254 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28135719)
Ambry Genetics RCV000253609 SCV000319060 uncertain significance Cardiovascular phenotype 2013-10-18 criteria provided, single submitter clinical testing The p.A4940T variant (also known as c.14818G>A) is located in coding exon 59 of the TTNgene. This alteration results from a G to A substitution at nucleotide position 14818. The alanine at codon 4940 is replaced by threonine, an amino acid with some similar properties.This variant was previously reported in dbSNP asrs72648947. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.05% (6/12178), having been observed in0.07% (6/8308)of European American alleles, and not observed in 3870 African American alleles studied.This variant was not reported in the1000 Genomes Project.Based on protein sequence alignment, this amino acidposition is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging by PolyPhen analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000469338 SCV000542876 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727793 SCV000855198 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852903 SCV000995642 likely benign Long QT syndrome 2018-02-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727793 SCV001153069 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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