ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu)

gnomAD frequency: 0.00003  dbSNP: rs876658069
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Total submissions: 3
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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 RCV000214398 SCV000272697 uncertain significance not specified 2015-03-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp16532Glu v ariant in TTN has not been previously reported in individuals with cardiomyopath y or in large population studies. Asparagine (Asp) is not conserved in evolution arily distant species and the change to glutamine (Glu) is present in >10 fish s pecies, raising the possibility that this change may be tolerated. Additional co mputational prediction tools suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Asp16532Glu variant is uncer tain, the presence of the variant amino acid in multiple other species suggests that it is more likely to be benign.
Ambry Genetics RCV002433938 SCV002754219 uncertain significance Cardiovascular phenotype 2019-01-17 criteria provided, single submitter clinical testing The p.D10035E variant (also known as c.30105T>G), located in coding exon 121 of the TTN gene, results from a T to G substitution at nucleotide position 30105. The aspartic acid at codon 10035 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and 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.
Fulgent Genetics, Fulgent Genetics RCV002485402 SCV002788372 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-18 criteria provided, single submitter clinical testing

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