ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) (rs61491953)

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Total submissions: 4
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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.
GeneReviews 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, Singapore 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

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