ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val)

gnomAD frequency: 0.00002  dbSNP: rs763092484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517138 SCV000615995 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384000 SCV002693274 uncertain significance Cardiovascular phenotype 2019-10-18 criteria provided, single submitter clinical testing The p.E4406V variant (also known as c.13217A>T), located in coding exon 45 of the TTN gene, results from an A to T substitution at nucleotide position 13217. The glutamic acid at codon 4406 is replaced by valine, an amino acid with dissimilar 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 RCV002490893 SCV002781047 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 2021-10-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139723 SCV003825921 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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