ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr)

gnomAD frequency: 0.00001  dbSNP: rs727504962
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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 RCV000156372 SCV000206090 uncertain significance not specified 2014-02-27 criteria provided, single submitter clinical testing The Met30388Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. Addit ional information is needed to fully assess the clinical significance of the Met 30388Thr variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463374 SCV000542257 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355846 SCV001550850 uncertain significance not provided no assertion criteria provided clinical testing The TTN p.(Met23891Thr) variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, MutDB or LOVD 3.0 databases but was identified in dbSNP (ID: rs727504962). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Met23891 residue is conserved in mammals and computational analyses (PolyPhen-2, BLOSUM, MutationTaster) predict impact to the protein; however this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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