ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.396C>A (p.Tyr132Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004792312 SCV005413173 likely pathogenic not provided 2024-01-23 criteria provided, single submitter clinical testing PM2_moderate, PVS1_strong
Athena Diagnostics RCV004792312 SCV005620765 pathogenic not provided 2024-04-05 criteria provided, single submitter clinical testing This variant is not expected to cause loss of protein expression through nonsense-mediated decay, however, similar variants in this region have been associated with hereditary neuropathy with liability to pressure palsies (HNPP), and therefore, this variant is also expected to associate with HNPP. This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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