ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47196G>C (p.Val15732=) (rs369979598)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154938 SCV000204620 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val13164Val in exon 201 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/6710 European American chromosomes from a broad population by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS).
Invitae RCV000714040 SCV000643233 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714040 SCV000844703 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000714040 SCV000884805 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing The p.Val13164Val variant (rs369979598) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.003 percent (identified on 8 out of 275,964 chromosomes) and has been reported to the ClinVar database (Variation ID: 178206). The nucleotide for this synonymous variant is weakly conserved, and computational analyses (Alamut v.2.11) predict that it may impact splicing by creating a novel cryptic donor in exon 253 located in the A-band of the TTN protein. Although truncating variants in the A-band are associated with increased risk of dilated cardiomyopathy (Schafer 2017), the clinical significance of the p.Val13164Val variant cannot be determined with certainty.
GeneDx RCV000714040 SCV000980911 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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