ClinVar Miner

Submissions for variant NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555990 SCV005045120 likely pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1G 2024-01-09 criteria provided, single submitter clinical testing The PMP2 c.167G>T (p.Ser56Ile) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant resides within the fatty acid coordinating region of PMP2 that is defined as a critical functional domain (Palaima P et al., PMID: 31412900) and several other nearby pathogenic or likely pathogenic variants have been identified as occurring de novo in affected individuals (Motley WW et al., PMID: 27009151). Computational predictors are uncertain as to the impact of this variant on PMP2 function. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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