Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319328 | SCV001183693 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-03-27 | criteria provided, single submitter | clinical testing | The c.4189_4191delATT variant (also known as p.I1397del) is located in coding exon 31 of the NF1 gene. This variant results from an in-frame ATT deletion at nucleotide positions 4189 to 4191. This results in the in-frame deletion of an well conserved isoleucine at codon 1397. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |