Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026224 | SCV001188562 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-06 | criteria provided, single submitter | clinical testing | The c.727G>A (p.V243I) alteration is located in exon 5 (coding exon 5) of the STK11 gene. This alteration results from a G to A substitution at nucleotide position 727, causing the valine (V) at amino acid position 243 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |