ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter)

dbSNP: rs545637885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585250 SCV001818634 pathogenic not provided 2019-08-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001866184 SCV002224643 pathogenic Charcot-Marie-Tooth disease type 2E 2022-10-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1215368). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Tyr139*) in the NEFL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEFL are known to be pathogenic (PMID: 19158810, 20039262). For these reasons, this variant has been classified as Pathogenic.

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