ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp)

gnomAD frequency: 0.00001  dbSNP: rs370516977
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Total submissions: 2
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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 RCV000214008 SCV000272820 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing The p.Gly30953Asp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/65532 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s370516977). Computational prediction tools and conservation analysis suggest th at the p.Gly30953Asp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Gly30953Asp variant is uncertain.
Ambry Genetics RCV002381749 SCV002674936 uncertain significance Cardiovascular phenotype 2019-05-30 criteria provided, single submitter clinical testing The p.G24456D variant (also known as c.73367G>A), located in coding exon 184 of the TTN gene, results from a G to A substitution at nucleotide position 73367. The glycine at codon 24456 is replaced by aspartic acid, 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.

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