ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)

gnomAD frequency: 0.00005  dbSNP: rs140760859
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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 RCV000172478 SCV000051344 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155013 SCV000204695 uncertain significance not specified 2013-04-02 criteria provided, single submitter clinical testing The Ala1385Thr variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has been identified in 1/4406 Afri can American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/) and in 1/1324 European chromosomes by the ClinSeq Project (db SNP rs140760859). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully asse ss the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464939 SCV000542704 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000172478 SCV000725614 likely benign not provided 2019-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769134 SCV000900508 uncertain significance Cardiomyopathy 2020-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354371 SCV002622213 uncertain significance Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing The p.A1339T variant (also known as c.4015G>A), located in coding exon 22 of the TTN gene, results from a G to A substitution at nucleotide position 4015. The alanine at codon 1339 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000172478 SCV003820298 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172478 SCV004183842 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: PM2

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