ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile) (rs541266544)

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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 RCV000620531 SCV000736744 uncertain significance Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing The p.L16703I variant (also known as c.50107C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide position 50107. The leucine at codon 16703 is replaced by isoleucine, an amino acid with highly similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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 RCV000871033 SCV001012628 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000871033 SCV001768522 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing

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