ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile)

gnomAD frequency: 0.00007  dbSNP: rs200413367
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Total submissions: 4
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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 RCV000172456 SCV000051338 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000412685 SCV000238060 uncertain significance not specified 2014-06-05 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).
Ambry Genetics RCV000618324 SCV000736027 uncertain significance Cardiovascular phenotype 2020-07-22 criteria provided, single submitter clinical testing The p.M3075I variant (also known as c.9225G>A), located in coding exon 38 of the TTN gene, results from a G to A substitution at nucleotide position 9225. The methionine at codon 3075 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is 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 RCV000172456 SCV003827325 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing

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