ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)

gnomAD frequency: 0.00002  dbSNP: rs369623681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249117 SCV000319832 uncertain significance Cardiovascular phenotype 2020-08-03 criteria provided, single submitter clinical testing The p.E7652D variant (also known as c.22956G>C), located in coding exon 93 of the TTN gene, results from a G to C substitution at nucleotide position 22956. The glutamic acid at codon 7652 is replaced by aspartic acid, an amino acid with highly 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.
Invitae RCV000462372 SCV000542426 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500951 SCV002780218 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 2021-07-23 criteria provided, single submitter clinical testing

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