ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)

gnomAD frequency: 0.00008  dbSNP: rs369195237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642896 SCV000764583 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192387 SCV001360461 uncertain significance not specified 2019-08-13 criteria provided, single submitter clinical testing Variant summary: TTN c.2767G>A (p.Glu923Lys) results in a conservative amino acid change located near the Z disk domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00013 in 250212 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Cardiomyopathy (0.00013 vs 0.00063), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2767G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001592788 SCV001826446 likely benign not provided 2019-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424457 SCV002744658 uncertain significance Cardiovascular phenotype 2018-08-13 criteria provided, single submitter clinical testing The p.E877K variant (also known as c.2629G>A), located in coding exon 14 of the TTN gene, results from a G to A substitution at nucleotide position 2629. The glutamic acid at codon 877 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001592788 SCV003819555 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing

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