Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570563 | SCV000673257 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-03-10 | criteria provided, single submitter | clinical testing | The c.136_137delATinsTG variant, located in coding exon 1 of the CHEK2 gene, results from an in-frame deletion of AT and insertion of TG at nucleotide positions 136 to 137. This results in the substitution of the methionine residue for a tryptophan residue at codon 46, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |