ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.281dup (p.Arg95fs) (rs80338763)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201059 SCV000255806 pathogenic Charcot-Marie-Tooth disease, type IA 2015-08-12 criteria provided, single submitter clinical testing
Invitae RCV001063962 SCV001228834 pathogenic Charcot-Marie-Tooth disease, type I 2019-02-27 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PMP22 gene (p.Arg95Glnfs*128). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the PMP22 protein and extend the protein by an additional 62 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals and families affected with hereditary neuropathy with liability to pressure palsies or demyelinating polyneuropathy (PMID: 9040737, 21692910,21252112, 28333917). This variant is also known as c.281_282insG in the literature. ClinVar contains an entry for this variant (Variation ID: 8437). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173918 SCV001337036 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000008952 SCV000029162 pathogenic Hereditary liability to pressure palsies 1997-02-01 no assertion criteria provided literature only
GeneReviews RCV000008952 SCV000040592 pathologic Hereditary liability to pressure palsies 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000033899 SCV000057813 pathologic Charcot-Marie-Tooth disease type 2E 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000008952 SCV000928954 uncertain significance Hereditary liability to pressure palsies no assertion criteria provided literature only

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