ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala)

gnomAD frequency: 0.00005  dbSNP: rs940553223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733712 SCV000861805 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000733712 SCV001472054 uncertain significance not provided 2020-08-11 criteria provided, single submitter clinical testing The TTN c.3148A>G; p.Thr1050Ala variant (rs940553223; ClinVar Variation ID: 597553) is rare in the general population (<0.2% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Thr1050Ala variant cannot be determined with certainty.
Ambry Genetics RCV002440579 SCV002753295 uncertain significance Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing The p.T1004A variant (also known as c.3010A>G), located in coding exon 17 of the TTN gene, results from an A to G substitution at nucleotide position 3010. The threonine at codon 1004 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine 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.
Fulgent Genetics, Fulgent Genetics RCV002493356 SCV002798317 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-02-04 criteria provided, single submitter clinical testing

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