ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)

gnomAD frequency: 0.00035  dbSNP: rs121912539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338998 SCV000431062 likely benign Hypergonadotropic hypogonadism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401542 SCV000431063 likely benign Leydig cell agenesis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000280904 SCV000431064 likely benign Gonadotropin-independent familial sexual precocity 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001753800 SCV001985288 uncertain significance not provided 2019-05-29 criteria provided, single submitter clinical testing Identified in a male patient with infertility who also had variant in the FSHR gene in published literature (Collodel et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23884663)
Invitae RCV001753800 SCV003263963 likely benign not provided 2023-07-27 criteria provided, single submitter clinical testing

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