ClinVar Miner

Submissions for variant NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Igenomix - Part of Vitrolife Group, Igenomix RCV004691663 SCV005187266 likely pathogenic Persistent Mullerian duct syndrome criteria provided, single submitter clinical testing The AMHR2 variant (NM_020547.3:c.514C>T, p.Arg172Ter) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense-mediated decay, which are commonly known mechanisms for disease (PVS1). Truncations downstream of this position have been classified as pathogenic. This variant is absent in the gnomAD v4.1.0 (PM2). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Based on the evidence outlined above, the variant was classified as likely pathogenic. This variant was detected in the heterozygous state through carrier screening.
Fulgent Genetics, Fulgent Genetics RCV004691663 SCV005636863 pathogenic Persistent Mullerian duct syndrome 2024-05-26 criteria provided, single submitter clinical testing

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