Question Regarding HGVS Nomenclature for Reporting VUS Germline Variants

[Katarzyna Jarząbek]

Dear HGVS Team,

I would like to ask for clarification regarding the use of HGVS nomenclature in clinical genetic reports.

Should germline variants classified as Variants of Uncertain Significance (VUS) be described using the official HGVS nomenclature in the patient report, or is HGVS nomenclature required only for pathogenic and likely pathogenic variants?

We would appreciate your guidance on whether there are any HGVS recommendations or best practices concerning the reporting and nomenclature of VUS variants in clinical diagnostics.

Thank you very much for your assistance.

Kind regards,

Katarzyna Jarząbek, PhD

Senior Laboratory Medicine Assistant

Lower Silesian Center for Oncology, Pulmonology and Haematology

Pl. L. HIRSZFELDA 12, 53-413 WROCŁAW

Poland

[Peter Freeman]

Hi Katarzyna,

All variants in clinical reports should really be described using the HGVS nomenclature. Although it is not totally explicit in the ACMG variant interpretation guidelines, https://doi.org/10.1038/gim.2015.30, all interpreted variants contained in the report should be described using HGVS (Refer to the section on Nomenclature). VUS and even Benign are still interpreted variants in clinical reports, so the HGVS nomenclature should still apply. 

Thanks

Peter Freeman