ClinVar Miner

Submissions for variant NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)

gnomAD frequency: 0.00024  dbSNP: rs146482011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713763 SCV000844392 likely benign not provided 2018-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001149823 SCV001310819 uncertain significance Hypogonadotropic hypogonadism 11 with or without anosmia 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000713763 SCV001794807 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing Reported in a patient with Kallman syndrome in the published literature (PMID: 22035731); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22035731)
Labcorp Genetics (formerly Invitae), Labcorp RCV000713763 SCV002436156 benign not provided 2023-02-03 criteria provided, single submitter clinical testing

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