ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)

gnomAD frequency: 0.00001  dbSNP: rs121912524
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity Omics RCV001781270 SCV002017141 pathogenic not provided 2019-05-02 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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

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