ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)

gnomAD frequency: 0.00001  dbSNP: rs201696360
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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 RCV000152480 SCV000201607 uncertain significance not specified 2017-07-10 criteria provided, single submitter clinical testing The p.Lys3274Gln variant in TTN has not been previously reported in any other fa mily with cardiomyopathy. This variant has been identified in 6/34408 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs201696360). Computational prediction tools and conservation an alysis suggest that the p.Lys3274Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, th e clinical significance of the p.Lys3274Gln variant is uncertain.
Ambry Genetics RCV000619310 SCV000737330 uncertain significance Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing The p.K3228Q variant (also known as c.9682A>C), located in coding exon 40 of the TTN gene, results from an A to C substitution at nucleotide position 9682. The lysine at codon 3228 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852533 SCV000995231 uncertain significance Cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505158 SCV002816538 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 2021-10-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137661 SCV003822806 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing

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