Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023301 | SCV001185157 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-20 | criteria provided, single submitter | clinical testing | The c.4941_4943delAGT variant (also known as p.V1649del) is located in coding exon 32 of the ATM gene. This variant results from an in-frame AGT deletion at nucleotide positions 4941 to 4943. This results in the in-frame deletion of a valine at codon 1649. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |