Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Magee Womens Research Institute, |
RCV000656703 | SCV000705208 | likely pathogenic | Leydig cell hypoplasia, type 1 | 2018-03-08 | no assertion criteria provided | research | The p.L237fs variant is a one bp homozygous recessive frame shift deletion. The mutation is not be reported before. Mutation in LHCGR can casuse Luteinizing hormone resistance in female has been reported in multiple literatures. Arnhold et al. (2009); Wu and Chan (1999); Toledo et al. (1996); According the ACMG standard, this variant can be classified as likely pathogenic. |