ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5762T>C (p.Ile1921Thr)

dbSNP: rs786205318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172471 SCV000051231 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV002345595 SCV002649257 uncertain significance Cardiovascular phenotype 2018-01-25 criteria provided, single submitter clinical testing The p.I1875T variant (also known as c.5624T>C), located in coding exon 26 of the TTN gene, results from a T to C substitution at nucleotide position 5624. The isoleucine at codon 1875 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 alterations remains unclear.

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