ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)

dbSNP: rs879253927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711645 SCV000292835 likely pathogenic not provided 2022-02-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000640659 SCV000762254 pathogenic Charcot-Marie-Tooth disease type 2E 2022-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 245748). This missense change has been observed in individuals with autosomal dominant Charcot-Marie-Tooth disease (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 393 of the NEFL protein (p.Leu393Phe).
Genesis Genome Database RCV000857196 SCV000999778 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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