ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)

gnomAD frequency: 0.00002  dbSNP: rs727504918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156307 SCV000206025 uncertain significance not specified 2016-07-13 criteria provided, single submitter clinical testing The p.Glu32404Lys variant in TTN has been identified by our laboratory in 1 Cauc asian individual with ARVC and bilateral enlargement/dilation and in 1 Caucasian infant with HCM who carried an additional likely pathogenic variant in another gene. It has also been identified in 1/66738 European chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs727504918). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Glu32404Lys variant is uncertain.
Invitae RCV000529644 SCV000642566 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408696 SCV002668964 uncertain significance Cardiovascular phenotype 2020-07-15 criteria provided, single submitter clinical testing The p.E25907K variant (also known as c.77719G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 77719. The glutamic acid at codon 25907 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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 RCV003137678 SCV003820179 uncertain significance not provided 2021-11-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486707 SCV004240236 likely benign Cardiomyopathy 2022-11-10 criteria provided, single submitter clinical testing

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