ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)

dbSNP: rs104894621
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000489163 SCV000230064 pathogenic not provided 2014-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456500 SCV000552821 pathogenic Charcot-Marie-Tooth disease, type I 2024-08-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 72 of the PMP22 protein (p.Ser72Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Dejerine-Sottas disease and congenital hypomyelinating neuropathy (PMID: 8275092, 9004143, 9585367, 10399754, 11314784). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 8433). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PMP22 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000489163 SCV000577163 pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10399754, 11314784, 9888385, 15285778, 8275092, 21840889, 19748054, 19705173, 31130284, 32005694)
Ambry Genetics RCV000622525 SCV000742419 pathogenic Inborn genetic diseases 2017-04-24 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729342 SCV001976812 pathogenic Charcot-Marie-Tooth disease, type IA 2021-10-05 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP3, PP5
Revvity Omics, Revvity RCV000489163 SCV002018871 pathogenic not provided 2020-08-28 criteria provided, single submitter clinical testing
OMIM RCV000008948 SCV000029158 pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 1998-05-01 no assertion criteria provided literature only

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