ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)

gnomAD frequency: 0.00014  dbSNP: rs376371272
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Total submissions: 6
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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 RCV000217480 SCV000272827 uncertain significance not specified 2015-08-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp31910Glu v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 8/9790 African chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376371272). Aspartic acid (Asp) at position 31910 is not conserved in mammals or evolutionarily dist ant species, of note naked mole rat and multiple fish species carried a glutamic acid (Glu) at this position, raising the possibility that this change may be to lerated. Additional computational prediction tools suggest that the p.Asp31910Gl u variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Asp31910Glu variant is uncertain, these data suggest that it is more like ly to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000230688 SCV000286399 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-27 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223195 SCV002501366 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing
GeneDx RCV002223195 SCV002504488 likely benign not provided 2019-03-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002390586 SCV002670602 uncertain significance Cardiovascular phenotype 2019-10-08 criteria provided, single submitter clinical testing The p.D25413E variant (also known as c.76239C>A), located in coding exon 185 of the TTN gene, results from a C to A substitution at nucleotide position 76239. The aspartic acid at codon 25413 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamic acid 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 RCV002223195 SCV003827399 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing

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