ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.138del (p.Ser47fs)

dbSNP: rs864622180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206056 SCV000259594 pathogenic Charcot-Marie-Tooth disease, type I 2023-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser47Glnfs*23) in the PMP22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMP22 are known to be pathogenic (PMID: 23224996). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25614874). ClinVar contains an entry for this variant (Variation ID: 219616). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV000712770 SCV000843295 likely pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790152 SCV000929543 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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