ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)

gnomAD frequency: 0.00009  dbSNP: rs397517786
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172161 SCV000051090 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040918 SCV000064609 uncertain significance not specified 2012-06-11 criteria provided, single submitter clinical testing The Met31575Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e and broad populations by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully asse ss the clinical significance of the Met31575Thr variant.
GeneDx RCV000172161 SCV000237900 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780, 23861362)
Labcorp Genetics (formerly Invitae), Labcorp RCV000542073 SCV000642518 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390173 SCV002672665 uncertain significance Cardiovascular phenotype 2019-09-23 criteria provided, single submitter clinical testing The p.M25078T variant (also known as c.75233T>C), located in coding exon 185 of the TTN gene, results from a T to C substitution at nucleotide position 75233. The methionine at codon 25078 is replaced by threonine, an amino acid with similar properties. This alteration (also described as NM_133378.4 c.94723T>C p.Met31575Thr) was reported in one individual with familial dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (Pugh TJ et al. Genet. Med., 2014 Aug;16:601-8). This alteration has also been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is not well conserved in available 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 RCV000172161 SCV003827896 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000172161 SCV005622079 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with autosomal dominant dilated cardiomyopathy. Polyphen and MutationTaster predict this amino acid change may be benign.

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