ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.1063-1G>C

dbSNP: rs2146805381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837169 SCV005837681 uncertain significance Hypogonadotropic hypogonadism 1 with or without anosmia 2024-10-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the ANOS1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of 8 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Kallmann syndrome (PMID: 36039580, 36859276). ClinVar contains an entry for this variant (Variation ID: 1341676). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in exon 8 (PMID: 36859276). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Surgery, The First Affiliated Hospital of Zhengzhou University RCV001837169 SCV002097589 likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia 2022-02-14 no assertion criteria provided research

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