ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) (rs61491953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235472 SCV001408159 pathogenic Charcot-Marie-Tooth disease type 2E 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 8 of the NEFL protein (p.Pro8Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 19158810, 12566280). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 66689). This variant disrupts the p.Pro8 amino acid residue in NEFL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12566280, 17620486, 12393795). 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.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057132 SCV000088245 not provided not provided no assertion provided not provided

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