Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234847 | SCV001378925 | pathogenic | Charcot-Marie-Tooth disease type 2E | 2019-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with arginine at codon 8 of the NEFL protein (p.Pro8Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with Charcot-Marie-Tooth disease (PMID: 12566280, 17620486, 22206013, 28501821). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 66688). This variant has been reported to affect NEFL protein function (PMID: 22155564, 23618875). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000234847 | SCV000055880 | pathologic | Charcot-Marie-Tooth disease type 2E | 2012-10-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057131 | SCV000088244 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000789663 | SCV000929036 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |