ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter)

dbSNP: rs773279269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000582170 SCV000692107 pathogenic Leydig cell agenesis 2018-01-02 criteria provided, single submitter clinical testing
GeneDx RCV002225682 SCV002504605 pathogenic not provided 2020-05-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31980526)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000582170 SCV005441986 likely pathogenic Leydig cell agenesis 2024-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754480 SCV005353346 likely pathogenic LHCGR-related disorder 2024-05-06 no assertion criteria provided clinical testing The LHCGR c.370C>T variant is predicted to result in premature protein termination (p.Arg124*). This variant was reported in at least one participant from a study of adults who underwent deep phenotyping and genome sequencing. Limited clinical information was provided (Hou et al. 2020. PubMed ID: 31980526). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in LHCGR are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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