ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7760A>G (p.Tyr2587Cys)

gnomAD frequency: 0.00001  dbSNP: rs375047082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263368 SCV000345105 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392815 SCV002670600 uncertain significance Cardiovascular phenotype 2020-06-26 criteria provided, single submitter clinical testing The p.Y2541C variant (also known as c.7622A>G), located in coding exon 31 of the TTN gene, results from an A to G substitution at nucleotide position 7622. The tyrosine at codon 2541 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is 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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