ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.709del (p.Leu237fs) (rs1553387851)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Magee Womens Research Institute,University of Pittsburgh Medical Center 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.

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