Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203305 | SCV001374462 | uncertain significance | Tumor predisposition syndrome 3 | 2019-09-02 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with POT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change deletes 2 nucleotides and inserts 2 different nucleotides in exon 10 of the POT1 mRNA (c.711_712delinsAC). This results in the replacement of 2 adjacent amino acids at codons 237 and 238 with 2 different amino acids (p.Ser237_Phe238delinsArgLeu). |