ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90727A>T (p.Ile30243Phe)

gnomAD frequency: 0.00008  dbSNP: rs925184690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842501 SCV000984524 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002363193 SCV002659009 uncertain significance Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing The p.I21178F variant (also known as c.63532A>T), located in coding exon 162 of the TTN gene, results from an A to T substitution at nucleotide position 63532. The isoleucine at codon 21178 is replaced by phenylalanine, an amino acid with highly similar 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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