ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)

gnomAD frequency: 0.00003  dbSNP: rs376942948
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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, Mass General Brigham Personalized Medicine RCV000609584 SCV000710938 uncertain significance not specified 2016-04-14 criteria provided, single submitter clinical testing The p.Met28468Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8620 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376942948). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Met28468Thr variant is uncertain.
Invitae RCV000643232 SCV000764919 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing
GeneDx RCV002225685 SCV002504481 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002368031 SCV002664687 uncertain significance Cardiovascular phenotype 2019-04-29 criteria provided, single submitter clinical testing The p.M21971T variant (also known as c.65912T>C), located in coding exon 166 of the TTN gene, results from a T to C substitution at nucleotide position 65912. The methionine at codon 21971 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, threonine 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.
Revvity Omics, Revvity RCV002225685 SCV003823572 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing

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