ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)

gnomAD frequency: 0.00004  dbSNP: rs747433688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592417 SCV000707860 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000592417 SCV002504530 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002420578 SCV002729074 uncertain significance Cardiovascular phenotype 2020-03-18 criteria provided, single submitter clinical testing The p.I7126V variant (also known as c.21376A>G), located in coding exon 86 of the TTN gene, results from an A to G substitution at nucleotide position 21376. The isoleucine at codon 7126 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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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