ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.1211T>C (p.Leu404Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004720208 SCV005205830 uncertain significance Persistent Mullerian duct syndrome 2024-08-29 criteria provided, single submitter clinical testing A homozygous missense variant in exon 5 of the AMH gene that results in the amino acid substitution of Proline for Leucine at codon 404 was detected. The observed variant lies in the 'Anti-Mullerian hormone, N terminal region' domain of the AMH protein (PF04709). The p.Leu404Pro variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomAD (v2.1), topmed and databases. The in-silico prediction of the variant is damaging by SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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