Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003418886 | SCV004114038 | likely pathogenic | HSF4-related disorder | 2024-04-02 | no assertion criteria provided | clinical testing | The HSF4 c.904delG variant is predicted to result in a frameshift and premature protein termination (p.Asp302Metfs*17). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD, which is likely too frequent to be associated with high penetrance. Frameshift variants in HSF4 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |