ClinVar Miner

Submissions for variant NM_000894.3(LHB):c.286G>A (p.Val96Met)

gnomAD frequency: 0.00016  dbSNP: rs149003040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, Polish Mother's Memorial Hospital Research Institute RCV001009619 SCV001169719 uncertain significance Isolated lutropin deficiency 2020-03-08 criteria provided, single submitter research variant was observed with the other variant in TACR3 gene (NM_001059.2:c.737+1G>A, MIM:614840 ), maternal origin, both observed in heterozygote status and in digenic pattern of inheritance for idiopatic hypogonadotropic hypogonadism/Kallmann syndrome
GeneDx RCV001759689 SCV001986383 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32763379)

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