ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) (rs765769524)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992714 SCV001145215 likely pathogenic not provided 2019-03-22 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/253132 chr).
Genesis Genome Database RCV000857047 SCV000999618 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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