ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter)

dbSNP: rs137852516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314550 SCV004014152 pathogenic not provided 2023-07-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 36039580, 26629483, 21682876, 26862482, 28780519, 12050219)
OMIM RCV000010694 SCV000030920 pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia 2002-06-01 no assertion criteria provided literature only

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