Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001449739 | SCV001653010 | likely pathogenic | Persistent Mullerian duct syndrome | 2020-06-11 | criteria provided, single submitter | clinical testing | The p.Val15TrpfsX29 variant in AMHR2 has not been previously reported in individuals with persistent Müllerian duct syndrome and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 15 and leads to a premature termination codon 29 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the AMHR2 gene is an established disease mechanism in autosomal recessive persistent Müllerian duct syndrome. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive persistent Müllerian duct syndrome. ACMG/AMP Criteria applied: PVS1, PM2. |