Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001781270 | SCV002017141 | pathogenic | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002251907 | SCV002523666 | likely pathogenic | See cases | 2020-04-17 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2, PM3, PP1 |
Invitae | RCV001781270 | SCV004293924 | pathogenic | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg554*) in the LHCGR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 146 amino acid(s) of the LHCGR protein. This variant is present in population databases (rs121912524, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with LHCGR-related conditions (PMID: 8559204; Invitae). ClinVar contains an entry for this variant (Variation ID: 14392). This variant disrupts a region of the LHCGR protein in which other variant(s) (p.Ser616Tyr) have been determined to be pathogenic (PMID: 26246498, 27016457; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000015470 | SCV000035735 | pathogenic | Leydig cell agenesis | 1996-02-22 | no assertion criteria provided | literature only | |
OMIM | RCV000015471 | SCV000035736 | pathogenic | Luteinizing hormone resistance, female | 1996-02-22 | no assertion criteria provided | literature only |