ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)

gnomAD frequency: 0.00003  dbSNP: rs377141765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724235 SCV000227869 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456148 SCV000542282 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000724235 SCV000620327 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983)
Athena Diagnostics RCV000724235 SCV001879654 uncertain significance not provided 2021-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444706 SCV002734742 uncertain significance Cardiovascular phenotype 2020-01-15 criteria provided, single submitter clinical testing The p.V7628I variant (also known as c.22882G>A), located in coding exon 93 of the TTN gene, results from a G to A substitution at nucleotide position 22882. The valine at codon 7628 is replaced by isoleucine, an amino acid with highly similar properties. This variant has been reported in a hypertrophic cardiomyopathy cohort in conjunction with variants in other cardiac-related genes (Lopes LR et al. J. Med. Genet., 2013 Apr;50:228-39). 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.

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