ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)

gnomAD frequency: 0.00005  dbSNP: rs965156924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643254 SCV000764941 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360584 SCV002666549 uncertain significance Cardiovascular phenotype 2019-11-20 criteria provided, single submitter clinical testing The p.K23395E variant (also known as c.70183A>G), located in coding exon 176 of the TTN gene, results from an A to G substitution at nucleotide position 70183. The lysine at codon 23395 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002483842 SCV002779810 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 2022-01-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139989 SCV003818450 uncertain significance not provided 2022-02-12 criteria provided, single submitter clinical testing

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