Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000254319 | SCV000319833 | uncertain significance | Cardiovascular phenotype | 2023-09-11 | criteria provided, single submitter | clinical testing | The c.21796_21798delATT variant (also known as p.I7266del), located in coding exon 88 of the TTN gene, results from an in-frame ATT deletion at nucleotide positions 21796 to 21798. This results in the in-frame deletion of an isoleucine at codon 7266. This amino acid position is highly conserved in available vertebrate species.Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |