ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.261_262del (p.Phe88fs)

dbSNP: rs1567704791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689425 SCV000817075 pathogenic Charcot-Marie-Tooth disease, type I 2021-02-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with PMP22-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 568922). This variant disrupts the p.Gly150 amino acid residue in PMP22. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1552943, 8995589, 9425015, 10078969, 10982389, 15474367, 15537650, 18795802, 25385046, 26102530). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This sequence change results in a frameshift in the PMP22 gene (p.Phe88Hisfs*134). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the PMP22 protein and extend the protein by 60 additional amino acid residues.

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