ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.343_344del (p.Leu115fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026445 SCV005655232 pathogenic Persistent Mullerian duct syndrome 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV005230819 SCV005874700 pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing Reported in a proband with persistent Mullerian duct syndrome who also harbored a missense variant in AMH, but detailed clinical information was not provided and it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 28528332); Frameshift 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; This variant is associated with the following publications: (PMID: 33787423, 28528332)

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