ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)

gnomAD frequency: 0.00010  dbSNP: rs199583938
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Total submissions: 7
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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 RCV000152242 SCV000201047 uncertain significance not specified 2014-07-10 criteria provided, single submitter clinical testing The Ala20035Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/594 of European chromosomes by the ClinSeq Project (dbSNP rs199583938). Computational prediction tools and cons ervation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Ala20035Val variant is unc ertain.
GeneDx RCV000152242 SCV000237461 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Invitae RCV000471840 SCV000542318 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619665 SCV000735913 uncertain significance Cardiovascular phenotype 2020-02-05 criteria provided, single submitter clinical testing The p.A13538V variant (also known as c.40613C>T), located in coding exon 147 of the TTN gene, results from a C to T substitution at nucleotide position 40613. The alanine at codon 13538 is replaced by valine, an amino acid with similar properties. 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.
Eurofins Ntd Llc (ga) RCV000733452 SCV000861523 uncertain significance not provided 2018-06-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498710 SCV002812269 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 2021-07-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000733452 SCV003826701 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing

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