ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)

gnomAD frequency: 0.00003  dbSNP: rs754207859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473090 SCV000542665 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768880 SCV000900253 uncertain significance Cardiomyopathy 2016-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356643 SCV002653614 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.G19642E variant (also known as c.58925G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58925. The glycine at codon 19642 is replaced by glutamic acid, 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.
Athena Diagnostics Inc RCV002473009 SCV002770573 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418156 SCV004109490 uncertain significance TTN-related condition 2023-06-22 criteria provided, single submitter clinical testing The TTN c.86120G>A variant is predicted to result in the amino acid substitution p.Gly28707Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179424739-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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