ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys)

gnomAD frequency: 0.00002  dbSNP: rs369262757
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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 RCV000152323 SCV000201207 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Ser15159Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8258 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to co nclusively determine pathogenicity. Additional information is needed to fully as sess the clinical significance of the Ser15159Cys variant.
Eurofins Ntd Llc (ga) RCV000726958 SCV000704431 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001056722 SCV001221184 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 17727 of the TTN protein (p.Ser17727Cys). This variant is present in population databases (rs369262757, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features of TTN-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 165989). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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